nsv6626813
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:36,071
- Publication(s):Zarrei et al. 2023
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: 539 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 504 SVs from 65 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6626813 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 10,569,465 | 10,605,535 |
nsv6626813 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 10,906,922 | 10,942,992 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18283759 | deletion | OSC2463 | SNP array | Probe signal intensity | 10 |
nssv18284192 | duplication | OSC2545 | SNP array | Probe signal intensity | 6 |
nssv18287526 | duplication | OSC2949 | SNP array | Probe signal intensity | nssv18287525, nssv18287524 |
nssv18289575 | duplication | OSC3564 | SNP array | Probe signal intensity | 8 |
nssv18291168 | duplication | OSC3580 | SNP array | Probe signal intensity | 8 |
nssv18291370 | duplication | OSC0035 | SNP array | Probe signal intensity | 10 |
nssv18291657 | deletion | OSC3903 | SNP array | Probe signal intensity | 7 |
nssv18317249 | deletion | OSC0087 | SNP array | Probe signal intensity | 8 |
nssv18320544 | deletion | OSC0952 | SNP array | Probe signal intensity | 9 |
nssv18320920 | duplication | OSC1018 | SNP array | Probe signal intensity | 5 |
nssv18321401 | deletion | OSC1106 | SNP array | Probe signal intensity | nssv18321028, nssv18321029 |
nssv18323716 | deletion | OSC0179 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18283759 | Remapped | Perfect | NC_000021.9:g.(?_1 0569465)_(10605535 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,569,465 | 10,605,535 |
nssv18284192 | Remapped | Perfect | NC_000021.9:g.(?_1 0569465)_(10605535 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,569,465 | 10,605,535 |
nssv18287526 | Remapped | Perfect | NC_000021.9:g.(?_1 0569465)_(10605535 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,569,465 | 10,605,535 |
nssv18289575 | Remapped | Perfect | NC_000021.9:g.(?_1 0569465)_(10605535 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,569,465 | 10,605,535 |
nssv18291168 | Remapped | Perfect | NC_000021.9:g.(?_1 0569465)_(10605535 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,569,465 | 10,605,535 |
nssv18291370 | Remapped | Perfect | NC_000021.9:g.(?_1 0569465)_(10605535 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,569,465 | 10,605,535 |
nssv18291657 | Remapped | Perfect | NC_000021.9:g.(?_1 0569465)_(10605535 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,569,465 | 10,605,535 |
nssv18317249 | Remapped | Perfect | NC_000021.9:g.(?_1 0569465)_(10605535 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,569,465 | 10,605,535 |
nssv18320544 | Remapped | Perfect | NC_000021.9:g.(?_1 0569465)_(10605535 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,569,465 | 10,605,535 |
nssv18320920 | Remapped | Perfect | NC_000021.9:g.(?_1 0569465)_(10605535 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,569,465 | 10,605,535 |
nssv18321401 | Remapped | Perfect | NC_000021.9:g.(?_1 0569465)_(10605535 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,569,465 | 10,605,535 |
nssv18323716 | Remapped | Perfect | NC_000021.9:g.(?_1 0569465)_(10605535 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,569,465 | 10,605,535 |
nssv18283759 | Submitted genomic | NC_000021.8:g.(?_1 0906922)_(10942992 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,906,922 | 10,942,992 | ||
nssv18284192 | Submitted genomic | NC_000021.8:g.(?_1 0906922)_(10942992 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,906,922 | 10,942,992 | ||
nssv18287526 | Submitted genomic | NC_000021.8:g.(?_1 0906922)_(10942992 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,906,922 | 10,942,992 | ||
nssv18289575 | Submitted genomic | NC_000021.8:g.(?_1 0906922)_(10942992 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,906,922 | 10,942,992 | ||
nssv18291168 | Submitted genomic | NC_000021.8:g.(?_1 0906922)_(10942992 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,906,922 | 10,942,992 | ||
nssv18291370 | Submitted genomic | NC_000021.8:g.(?_1 0906922)_(10942992 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,906,922 | 10,942,992 | ||
nssv18291657 | Submitted genomic | NC_000021.8:g.(?_1 0906922)_(10942992 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,906,922 | 10,942,992 | ||
nssv18317249 | Submitted genomic | NC_000021.8:g.(?_1 0906922)_(10942992 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,906,922 | 10,942,992 | ||
nssv18320544 | Submitted genomic | NC_000021.8:g.(?_1 0906922)_(10942992 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,906,922 | 10,942,992 | ||
nssv18320920 | Submitted genomic | NC_000021.8:g.(?_1 0906922)_(10942992 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,906,922 | 10,942,992 | ||
nssv18321401 | Submitted genomic | NC_000021.8:g.(?_1 0906922)_(10942992 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,906,922 | 10,942,992 | ||
nssv18323716 | Submitted genomic | NC_000021.8:g.(?_1 0906922)_(10942992 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,906,922 | 10,942,992 |