nsv2781781
- Organism: Homo sapiens
- Study:nstd133 (Redin et al. 2016)
- Variant Type:complex chromosomal rearrangement
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1
- Publication(s):Redin et al. 2016
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 77 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 77 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 74 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 74 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 84 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 84 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 77 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 77 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 1805 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1803 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 96 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 96 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 77 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 77 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 74 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 74 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 79 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 79 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 77 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 77 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 739 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 740 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 96 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 96 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 20 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781781 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 102,029,489 | 102,029,489 | + |
nsv2781781 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 102,029,489 | 102,029,489 | - |
nsv2781781 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 102,229,416 | 102,229,416 | + |
nsv2781781 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 102,229,416 | 102,229,416 | - |
nsv2781781 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 43,346,040 | 43,346,040 | + |
nsv2781781 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 43,346,040 | 43,346,040 | + |
nsv2781781 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 43,474,628 | 43,474,628 | + |
nsv2781781 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 43,474,628 | 43,474,628 | + |
nsv2781781 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 46,597,651 | 46,597,651 | - |
nsv2781781 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 46,598,916 | 46,598,916 | + |
nsv2781781 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 68,691,517 | 68,691,517 | + |
nsv2781781 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 68,691,517 | 68,691,517 | - |
nsv2781781 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 73,227,875 | 73,227,875 | + |
nsv2781781 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 73,227,875 | 73,227,875 | + |
nsv2781781 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 96,707,530 | 96,707,530 | + |
nsv2781781 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 96,707,530 | 96,707,530 | - |
nsv2781781 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 96,885,146 | 96,885,146 | + |
nsv2781781 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 96,885,146 | 96,885,146 | - |
nsv2781781 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 103,789,246 | 103,789,246 | + | ||
nsv2781781 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 103,789,246 | 103,789,246 | - | ||
nsv2781781 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 103,989,173 | 103,989,173 | + | ||
nsv2781781 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 103,989,173 | 103,989,173 | - | ||
nsv2781781 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 43,841,488 | 43,841,488 | + | ||
nsv2781781 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 43,841,488 | 43,841,488 | + | ||
nsv2781781 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 43,970,076 | 43,970,076 | + | ||
nsv2781781 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 43,970,076 | 43,970,076 | + | ||
nsv2781781 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 46,950,701 | 46,950,701 | + | ||
nsv2781781 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 46,951,966 | 46,951,966 | - | ||
nsv2781781 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 70,451,274 | 70,451,274 | + | ||
nsv2781781 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 70,451,274 | 70,451,274 | - | ||
nsv2781781 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 74,987,633 | 74,987,633 | + | ||
nsv2781781 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 74,987,633 | 74,987,633 | + | ||
nsv2781781 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 98,467,287 | 98,467,287 | + | ||
nsv2781781 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 98,467,287 | 98,467,287 | - | ||
nsv2781781 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 98,644,903 | 98,644,903 | + | ||
nsv2781781 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 98,644,903 | 98,644,903 | - |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13659953 | intrachromosomal translocation | DGAP164 | Sequencing | Split read and paired-end mapping | SCV000320801 | 9 |
nssv13659955 | copy number gain | DGAP164 | Sequencing | Split read and paired-end mapping | SCV000320801 | 9 |
nssv13659950 | intrachromosomal translocation | DGAP164 | Sequencing | Split read and paired-end mapping | SCV000320801 | 9 |
nssv13659952 | intrachromosomal translocation | DGAP164 | Sequencing | Split read and paired-end mapping | SCV000320801 | 9 |
nssv13659954 | intrachromosomal translocation | DGAP164 | Sequencing | Split read and paired-end mapping | SCV000320801 | 9 |
nssv13659951 | intrachromosomal translocation | DGAP164 | Sequencing | Split read and paired-end mapping | SCV000320801 | 9 |
nssv13659956 | copy number loss | DGAP164 | Sequencing | Split read and paired-end mapping | SCV000320801 | 9 |
nssv13659957 | copy number gain | DGAP164 | Sequencing | Split read and paired-end mapping | SCV000320801 | 9 |
nssv13659958 | copy number gain | DGAP164 | Sequencing | Split read and paired-end mapping | SCV000320801 | 9 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|---|
nssv13659953 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 43,346,040 | 43,346,040 | + | |
nssv13659955 | Remapped | Perfect | NC_000010.11:g.433 46040dupNC_000010. 11:g.43474628dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 43,346,040 | 43,346,040 | |
nssv13659950 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 43,474,628 | 43,474,628 | + | |
nssv13659955 | Remapped | Perfect | NC_000010.11:g.433 46040dupNC_000010. 11:g.43474628dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 43,474,628 | 43,474,628 | |
nssv13659952 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,597,651 | 46,597,651 | - | |
nssv13659954 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,598,916 | 46,598,916 | + | |
nssv13659951 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 68,691,517 | 68,691,517 | - | |
nssv13659956 | Remapped | Perfect | NC_000010.11:g.686 91517delNC_000010. 11:g.73227875del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 68,691,517 | 68,691,517 | |
nssv13659954 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 73,227,875 | 73,227,875 | + | |
nssv13659956 | Remapped | Perfect | NC_000010.11:g.686 91517delNC_000010. 11:g.73227875del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 73,227,875 | 73,227,875 | |
nssv13659953 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 96,707,530 | 96,707,530 | - | |
nssv13659957 | Remapped | Perfect | NC_000010.11:g.967 07530dupNC_000010. 11:g.96885146dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 96,707,530 | 96,707,530 | |
nssv13659952 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 96,885,146 | 96,885,146 | - | |
nssv13659957 | Remapped | Perfect | NC_000010.11:g.967 07530dupNC_000010. 11:g.96885146dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 96,885,146 | 96,885,146 | |
nssv13659951 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 102,029,489 | 102,029,489 | - | |
nssv13659958 | Remapped | Perfect | NC_000010.11:g.102 029489dupNC_000010 .11:g.102229416dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 102,029,489 | 102,029,489 | |
nssv13659950 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 102,229,416 | 102,229,416 | - | |
nssv13659958 | Remapped | Perfect | NC_000010.11:g.102 029489dupNC_000010 .11:g.102229416dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 102,229,416 | 102,229,416 | |
nssv13659953 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 43,841,488 | 43,841,488 | + | |||
nssv13659955 | Submitted genomic | [NC_000010.10:g.43 841488dup];[NC_000 010.10:g.43970076d up] | GRCh37 (hg19) | NC_000010.10 | Chr10 | 43,841,488 | 43,841,488 | |||
nssv13659950 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 43,970,076 | 43,970,076 | + | |||
nssv13659955 | Submitted genomic | [NC_000010.10:g.43 841488dup];[NC_000 010.10:g.43970076d up] | GRCh37 (hg19) | NC_000010.10 | Chr10 | 43,970,076 | 43,970,076 | |||
nssv13659954 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,950,701 | 46,950,701 | + | |||
nssv13659952 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,951,966 | 46,951,966 | - | |||
nssv13659951 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 70,451,274 | 70,451,274 | - | |||
nssv13659956 | Submitted genomic | [NC_000010.10:g.70 451274del];[NC_000 010.10:g.74987633d el] | GRCh37 (hg19) | NC_000010.10 | Chr10 | 70,451,274 | 70,451,274 | |||
nssv13659954 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 74,987,633 | 74,987,633 | + | |||
nssv13659956 | Submitted genomic | [NC_000010.10:g.70 451274del];[NC_000 010.10:g.74987633d el] | GRCh37 (hg19) | NC_000010.10 | Chr10 | 74,987,633 | 74,987,633 | |||
nssv13659953 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 98,467,287 | 98,467,287 | - | |||
nssv13659957 | Submitted genomic | [NC_000010.10:g.98 467287dup];[NC_000 010.10:g.98644903d up] | GRCh37 (hg19) | NC_000010.10 | Chr10 | 98,467,287 | 98,467,287 | |||
nssv13659952 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 98,644,903 | 98,644,903 | - | |||
nssv13659957 | Submitted genomic | [NC_000010.10:g.98 467287dup];[NC_000 010.10:g.98644903d up] | GRCh37 (hg19) | NC_000010.10 | Chr10 | 98,644,903 | 98,644,903 | |||
nssv13659951 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 103,789,246 | 103,789,246 | - | |||
nssv13659958 | Submitted genomic | [NC_000010.10:g.10 3789246dup];[NC_00 0010.10:g.10398917 3dup] | GRCh37 (hg19) | NC_000010.10 | Chr10 | 103,789,246 | 103,789,246 | |||
nssv13659950 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 103,989,173 | 103,989,173 | - | |||
nssv13659958 | Submitted genomic | [NC_000010.10:g.10 3789246dup];[NC_00 0010.10:g.10398917 3dup] | GRCh37 (hg19) | NC_000010.10 | Chr10 | 103,989,173 | 103,989,173 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | Sample ID | HGVS | Type | Clinical Interpretation | ClinVar ID | Gender | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|---|
nssv13659953 | DGAP164 | intrachromosomal translocation | SCV000320801 | Male | 9 | ||
nssv13659955 | DGAP164 | GRCh37: [NC_000010.10:g.43841488dup];[NC_000010.10:g.43970076dup] | copy number gain | SCV000320801 | Male | 9 | |
nssv13659950 | DGAP164 | intrachromosomal translocation | SCV000320801 | Male | 9 | ||
nssv13659952 | DGAP164 | intrachromosomal translocation | SCV000320801 | Male | 9 | ||
nssv13659954 | DGAP164 | intrachromosomal translocation | SCV000320801 | Male | 9 | ||
nssv13659951 | DGAP164 | intrachromosomal translocation | SCV000320801 | Male | 9 | ||
nssv13659956 | DGAP164 | GRCh37: [NC_000010.10:g.70451274del];[NC_000010.10:g.74987633del] | copy number loss | SCV000320801 | Male | 9 | |
nssv13659957 | DGAP164 | GRCh37: [NC_000010.10:g.98467287dup];[NC_000010.10:g.98644903dup] | copy number gain | SCV000320801 | Male | 9 | |
nssv13659958 | DGAP164 | GRCh37: [NC_000010.10:g.103789246dup];[NC_000010.10:g.103989173dup] | copy number gain | SCV000320801 | Male | 9 |