nsv2781803
- Organism: Homo sapiens
- Study:nstd133 (Redin et al. 2016)
- Variant Type:complex chromosomal rearrangement
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:3
- 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: 117 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 117 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 293 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 293 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 117 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 117 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 293 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 293 SVs from 44 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781803 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 11,369,949 | 11,369,949 | + |
nsv2781803 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 11,369,949 | 11,369,949 | - |
nsv2781803 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 14,708,352 | 14,708,352 | + |
nsv2781803 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 14,708,352 | 14,708,352 | + |
nsv2781803 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 43,462,272 | 43,462,272 | + |
nsv2781803 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 43,462,272 | 43,462,272 | - |
nsv2781803 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 11,411,948 | 11,411,948 | + | ||
nsv2781803 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 11,411,948 | 11,411,948 | - | ||
nsv2781803 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 14,750,351 | 14,750,351 | + | ||
nsv2781803 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 14,750,351 | 14,750,351 | + | ||
nsv2781803 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 43,931,475 | 43,931,475 | + | ||
nsv2781803 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 43,931,475 | 43,931,475 | - |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13659975 | interchromosomal translocation | DGAP195 | Sequencing | Split read and paired-end mapping | SCV000320823 | nssv13660028, nssv13660029 |
nssv13660029 | copy number loss | DGAP195 | Sequencing | Split read and paired-end mapping | SCV000320823 | nssv13659975, nssv13660028 |
nssv13660028 | interchromosomal translocation | DGAP195 | Sequencing | Split read and paired-end mapping | SCV000320823 | nssv13659975, nssv13660029 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|---|
nssv13659975 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 11,369,949 | 11,369,949 | - | |
nssv13660029 | Remapped | Perfect | NC_000010.11:g.113 69949delNC_000010. 11:g.14708352del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 11,369,949 | 11,369,949 | |
nssv13660028 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 14,708,352 | 14,708,352 | + | |
nssv13660029 | Remapped | Perfect | NC_000010.11:g.113 69949delNC_000010. 11:g.14708352del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 14,708,352 | 14,708,352 | |
nssv13659975 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 43,462,272 | 43,462,272 | + | |
nssv13660028 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 43,462,272 | 43,462,272 | - | |
nssv13659975 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 11,411,948 | 11,411,948 | - | |||
nssv13660029 | Submitted genomic | [NC_000010.10:g.11 411948del];[NC_000 010.10:g.14750351d el] | GRCh37 (hg19) | NC_000010.10 | Chr10 | 11,411,948 | 11,411,948 | |||
nssv13660028 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 14,750,351 | 14,750,351 | + | |||
nssv13660029 | Submitted genomic | [NC_000010.10:g.11 411948del];[NC_000 010.10:g.14750351d el] | GRCh37 (hg19) | NC_000010.10 | Chr10 | 14,750,351 | 14,750,351 | |||
nssv13659975 | Submitted genomic | GRCh37 (hg19) | NC_000014.8 | Chr14 | 43,931,475 | 43,931,475 | + | |||
nssv13660028 | Submitted genomic | GRCh37 (hg19) | NC_000014.8 | Chr14 | 43,931,475 | 43,931,475 | - |
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 |
---|---|---|---|---|---|---|---|
nssv13659975 | DGAP195 | interchromosomal translocation | SCV000320823 | Female | nssv13660028, nssv13660029 | ||
nssv13660029 | DGAP195 | GRCh37: [NC_000010.10:g.11411948del];[NC_000010.10:g.14750351del] | copy number loss | SCV000320823 | Female | nssv13659975, nssv13660028 | |
nssv13660028 | DGAP195 | interchromosomal translocation | SCV000320823 | Female | nssv13659975, nssv13660029 |