nsv939555
- Organism: Homo sapiens
- Study:nstd84 (de Ligt et al. 2013)
- Variant Type:copy number variation
- Method Type:Oligo aCGH, SNP array, Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:88,524
- Publication(s):de Ligt et al. 2013
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: 306 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 306 SVs from 46 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv939555 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 76,807,766 | 76,807,766 | 76,896,289 | 76,896,289 |
nsv939555 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 77,720,002 | 77,720,002 | 77,808,525 | 77,808,525 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv1668832 | copy number loss | 3 | SNP array | SNP genotyping analysis | 1 | 1,181 |
nssv1668833 | copy number loss | 3 | Oligo aCGH | Probe signal intensity | 1 | 1,181 |
nssv1668834 | copy number loss | 3 | Sequencing | Read depth | 1 | 1,181 |
nssv1668835 | copy number loss | 3 | SNP array | SNP genotyping analysis | 1 | 1,181 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv1668832 | Remapped | Perfect | NC_000008.11:g.(76 807766_?)_(?_76896 289)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 76,807,766 | 76,896,289 |
nssv1668833 | Remapped | Perfect | NC_000008.11:g.(76 808473_?)_(?_76895 650)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 76,808,473 | 76,895,650 |
nssv1668834 | Remapped | Perfect | NC_000008.11:g.(76 833340_?)_(?_76864 566)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 76,833,340 | 76,864,566 |
nssv1668835 | Remapped | Perfect | NC_000008.11:g.(76 833399_?)_(?_76883 004)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 76,833,399 | 76,883,004 |
nssv1668832 | Submitted genomic | NC_000008.10:g.(77 720002_?)_(?_77808 525)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 77,720,002 | 77,808,525 | ||
nssv1668833 | Submitted genomic | NC_000008.10:g.(77 720709_?)_(?_77807 886)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 77,720,709 | 77,807,886 | ||
nssv1668834 | Submitted genomic | NC_000008.10:g.(77 745576_?)_(?_77776 802)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 77,745,576 | 77,776,802 | ||
nssv1668835 | Submitted genomic | NC_000008.10:g.(77 745635_?)_(?_77795 240)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 77,745,635 | 77,795,240 |