nsv442307
- Organism: Homo sapiens
- Study:nstd22 (McCarroll et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:31,219
- Publication(s):McCarroll et al. 2008
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: 360 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 360 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 6 SVs from 3 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv442307 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 52,284,657 | 52,315,875 |
nsv442307 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 52,858,792 | 52,890,010 |
nsv442307 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000013.9 | Chr13 | 51,756,793 | 51,788,011 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv1659640 | copy number gain | NA07022 | SNP array | Probe signal intensity | 3 | 160 |
nssv1659641 | copy number gain | NA12751 | SNP array | Probe signal intensity | 3 | 156 |
nssv1659642 | copy number gain | NA19116 | SNP array | Probe signal intensity | 3 | 177 |
nssv1659643 | copy number gain | NA19120 | SNP array | Probe signal intensity | 3 | 179 |
nssv1659644 | copy number loss | NA18507 | SNP array | Probe signal intensity | 1 | 186 |
nssv1659645 | copy number loss | NA18516 | SNP array | Probe signal intensity | 1 | 170 |
nssv1659646 | copy number loss | NA18870 | SNP array | Probe signal intensity | 1 | 192 |
nssv1659647 | copy number loss | NA19204 | SNP array | Probe signal intensity | 1 | 200 |
nssv1659648 | copy number loss | NA19205 | SNP array | Probe signal intensity | 1 | 180 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv1659640 | Remapped | Perfect | NC_000013.11:g.(?_ 52284657)_(5231587 5_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 52,284,657 | 52,315,875 |
nssv1659641 | Remapped | Perfect | NC_000013.11:g.(?_ 52284657)_(5231587 5_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 52,284,657 | 52,315,875 |
nssv1659642 | Remapped | Perfect | NC_000013.11:g.(?_ 52284657)_(5231587 5_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 52,284,657 | 52,315,875 |
nssv1659643 | Remapped | Perfect | NC_000013.11:g.(?_ 52284657)_(5231587 5_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 52,284,657 | 52,315,875 |
nssv1659644 | Remapped | Perfect | NC_000013.11:g.(?_ 52284657)_(5231587 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 52,284,657 | 52,315,875 |
nssv1659645 | Remapped | Perfect | NC_000013.11:g.(?_ 52284657)_(5231587 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 52,284,657 | 52,315,875 |
nssv1659646 | Remapped | Perfect | NC_000013.11:g.(?_ 52284657)_(5231587 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 52,284,657 | 52,315,875 |
nssv1659647 | Remapped | Perfect | NC_000013.11:g.(?_ 52284657)_(5231587 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 52,284,657 | 52,315,875 |
nssv1659648 | Remapped | Perfect | NC_000013.11:g.(?_ 52284657)_(5231587 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 52,284,657 | 52,315,875 |
nssv1659640 | Remapped | Perfect | NC_000013.10:g.(?_ 52858792)_(5289001 0_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 52,858,792 | 52,890,010 |
nssv1659641 | Remapped | Perfect | NC_000013.10:g.(?_ 52858792)_(5289001 0_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 52,858,792 | 52,890,010 |
nssv1659642 | Remapped | Perfect | NC_000013.10:g.(?_ 52858792)_(5289001 0_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 52,858,792 | 52,890,010 |
nssv1659643 | Remapped | Perfect | NC_000013.10:g.(?_ 52858792)_(5289001 0_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 52,858,792 | 52,890,010 |
nssv1659644 | Remapped | Perfect | NC_000013.10:g.(?_ 52858792)_(5289001 0_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 52,858,792 | 52,890,010 |
nssv1659645 | Remapped | Perfect | NC_000013.10:g.(?_ 52858792)_(5289001 0_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 52,858,792 | 52,890,010 |
nssv1659646 | Remapped | Perfect | NC_000013.10:g.(?_ 52858792)_(5289001 0_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 52,858,792 | 52,890,010 |
nssv1659647 | Remapped | Perfect | NC_000013.10:g.(?_ 52858792)_(5289001 0_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 52,858,792 | 52,890,010 |
nssv1659648 | Remapped | Perfect | NC_000013.10:g.(?_ 52858792)_(5289001 0_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 52,858,792 | 52,890,010 |
nssv1659640 | Submitted genomic | NC_000013.9:g.(?_5 1756793)_(51788011 _?)dup | NCBI35 (hg17) | NC_000013.9 | Chr13 | 51,756,793 | 51,788,011 | ||
nssv1659641 | Submitted genomic | NC_000013.9:g.(?_5 1756793)_(51788011 _?)dup | NCBI35 (hg17) | NC_000013.9 | Chr13 | 51,756,793 | 51,788,011 | ||
nssv1659642 | Submitted genomic | NC_000013.9:g.(?_5 1756793)_(51788011 _?)dup | NCBI35 (hg17) | NC_000013.9 | Chr13 | 51,756,793 | 51,788,011 | ||
nssv1659643 | Submitted genomic | NC_000013.9:g.(?_5 1756793)_(51788011 _?)dup | NCBI35 (hg17) | NC_000013.9 | Chr13 | 51,756,793 | 51,788,011 | ||
nssv1659644 | Submitted genomic | NC_000013.9:g.(?_5 1756793)_(51788011 _?)del | NCBI35 (hg17) | NC_000013.9 | Chr13 | 51,756,793 | 51,788,011 | ||
nssv1659645 | Submitted genomic | NC_000013.9:g.(?_5 1756793)_(51788011 _?)del | NCBI35 (hg17) | NC_000013.9 | Chr13 | 51,756,793 | 51,788,011 | ||
nssv1659646 | Submitted genomic | NC_000013.9:g.(?_5 1756793)_(51788011 _?)del | NCBI35 (hg17) | NC_000013.9 | Chr13 | 51,756,793 | 51,788,011 | ||
nssv1659647 | Submitted genomic | NC_000013.9:g.(?_5 1756793)_(51788011 _?)del | NCBI35 (hg17) | NC_000013.9 | Chr13 | 51,756,793 | 51,788,011 | ||
nssv1659648 | Submitted genomic | NC_000013.9:g.(?_5 1756793)_(51788011 _?)del | NCBI35 (hg17) | NC_000013.9 | Chr13 | 51,756,793 | 51,788,011 |