nsv2781804
- Organism: Homo sapiens
- Study:nstd133 (Redin et al. 2016)
- Variant Type:complex chromosomal rearrangement
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:5
- 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: 140 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 140 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 212 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 212 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 129 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 129 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 140 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 140 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 212 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 212 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 129 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 129 SVs from 30 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781804 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 180,256,188 | 180,256,188 | - |
nsv2781804 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 180,256,245 | 180,256,245 | - |
nsv2781804 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 186,055,891 | 186,055,891 | + |
nsv2781804 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 186,055,941 | 186,055,941 | + |
nsv2781804 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 144,595,960 | 144,595,960 | + |
nsv2781804 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 144,595,960 | 144,595,960 | + |
nsv2781804 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 147,495,183 | 147,495,183 | + |
nsv2781804 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 147,495,183 | 147,495,183 | + |
nsv2781804 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 160,247,593 | 160,247,593 | + |
nsv2781804 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 160,247,595 | 160,247,595 | + |
nsv2781804 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 181,120,915 | 181,120,915 | - | ||
nsv2781804 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 181,120,972 | 181,120,972 | - | ||
nsv2781804 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 186,920,618 | 186,920,618 | + | ||
nsv2781804 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 186,920,668 | 186,920,668 | + | ||
nsv2781804 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 144,917,096 | 144,917,096 | + | ||
nsv2781804 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 144,917,096 | 144,917,096 | + | ||
nsv2781804 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 147,816,319 | 147,816,319 | + | ||
nsv2781804 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 147,816,319 | 147,816,319 | + | ||
nsv2781804 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 160,668,625 | 160,668,625 | + | ||
nsv2781804 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 160,668,627 | 160,668,627 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13660031 | interchromosomal translocation | DGAP196 | Sequencing | Split read mapping | SCV000320824 | 5 |
nssv13660033 | interchromosomal translocation | DGAP196 | Sequencing | Split read mapping | SCV000320824 | 5 |
nssv13660030 | interchromosomal translocation | DGAP196 | Sequencing | Split read mapping | SCV000320824 | 5 |
nssv13660034 | interchromosomal translocation | DGAP196 | Sequencing | Split read mapping | SCV000320824 | 5 |
nssv13660035 | copy number loss | DGAP196 | Sequencing | Split read mapping | SCV000320824 | 5 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|---|
nssv13660031 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 180,256,188 | 180,256,188 | - | |
nssv13660033 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 180,256,245 | 180,256,245 | - | |
nssv13660030 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 186,055,891 | 186,055,891 | + | |
nssv13660034 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 186,055,941 | 186,055,941 | + | |
nssv13660031 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 144,595,960 | 144,595,960 | + | |
nssv13660035 | Remapped | Perfect | NC_000006.12:g.144 595960delNC_000006 .12:g.147495183del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 144,595,960 | 144,595,960 | |
nssv13660033 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 147,495,183 | 147,495,183 | + | |
nssv13660035 | Remapped | Perfect | NC_000006.12:g.144 595960delNC_000006 .12:g.147495183del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 147,495,183 | 147,495,183 | |
nssv13660034 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 160,247,593 | 160,247,593 | + | |
nssv13660030 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 160,247,595 | 160,247,595 | + | |
nssv13660031 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 181,120,915 | 181,120,915 | - | |||
nssv13660033 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 181,120,972 | 181,120,972 | - | |||
nssv13660030 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 186,920,618 | 186,920,618 | + | |||
nssv13660034 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 186,920,668 | 186,920,668 | + | |||
nssv13660031 | Submitted genomic | GRCh37 (hg19) | NC_000006.11 | Chr6 | 144,917,096 | 144,917,096 | + | |||
nssv13660035 | Submitted genomic | [NC_000006.11:g.14 4917096del];[NC_00 0006.11:g.14781631 9del] | GRCh37 (hg19) | NC_000006.11 | Chr6 | 144,917,096 | 144,917,096 | |||
nssv13660033 | Submitted genomic | GRCh37 (hg19) | NC_000006.11 | Chr6 | 147,816,319 | 147,816,319 | + | |||
nssv13660035 | Submitted genomic | [NC_000006.11:g.14 4917096del];[NC_00 0006.11:g.14781631 9del] | GRCh37 (hg19) | NC_000006.11 | Chr6 | 147,816,319 | 147,816,319 | |||
nssv13660034 | Submitted genomic | GRCh37 (hg19) | NC_000006.11 | Chr6 | 160,668,625 | 160,668,625 | + | |||
nssv13660030 | Submitted genomic | GRCh37 (hg19) | NC_000006.11 | Chr6 | 160,668,627 | 160,668,627 | + |
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 |
---|---|---|---|---|---|---|---|
nssv13660031 | DGAP196 | interchromosomal translocation | SCV000320824 | Male | 5 | ||
nssv13660033 | DGAP196 | interchromosomal translocation | SCV000320824 | Male | 5 | ||
nssv13660030 | DGAP196 | interchromosomal translocation | SCV000320824 | Male | 5 | ||
nssv13660034 | DGAP196 | interchromosomal translocation | SCV000320824 | Male | 5 | ||
nssv13660035 | DGAP196 | GRCh37: [NC_000006.11:g.144917096del];[NC_000006.11:g.147816319del] | copy number loss | SCV000320824 | Male | 5 |