nsv6622105
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:16
- Validation:Not tested
- Clinical Assertions: No
- Region Size:23,948
- 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: 716 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 720 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6622105 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 113,810,701 | 113,834,648 |
| nsv6622105 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 114,513,674 | 114,537,621 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18283195 | duplication | OSC2295 | SNP array | Probe signal intensity | 5 |
| nssv18284041 | duplication | OSC2437 | SNP array | Probe signal intensity | nssv18284038, nssv18284039, nssv18284040 |
| nssv18284889 | duplication | OSC2609 | SNP array | Probe signal intensity | 5 |
| nssv18285940 | duplication | OSC2684 | SNP array | Probe signal intensity | 8 |
| nssv18286006 | duplication | OSC0286 | SNP array | Probe signal intensity | 9 |
| nssv18287619 | duplication | OSC3022 | SNP array | Probe signal intensity | 5 |
| nssv18289029 | duplication | OSC3328 | SNP array | Probe signal intensity | 5 |
| nssv18289420 | duplication | OSC3442 | SNP array | Probe signal intensity | nssv18289421, nssv18289746 |
| nssv18293448 | duplication | OSC4093 | SNP array | Probe signal intensity | 6 |
| nssv18293618 | duplication | OSC4219 | SNP array | Probe signal intensity | 6 |
| nssv18309181 | duplication | OSC0005 | SNP array | Probe signal intensity | 12 |
| nssv18309243 | duplication | OSC0746 | SNP array | Probe signal intensity | 8 |
| nssv18312621 | duplication | OSC0811 | SNP array | Probe signal intensity | 5 |
| nssv18319827 | duplication | OSC0922 | SNP array | Probe signal intensity | nssv18320472, nssv18319837, nssv18319832 |
| nssv18323619 | duplication | OSC1637 | SNP array | Probe signal intensity | nssv18323620, nssv18323990, nssv18324268 |
| nssv18325934 | duplication | OSC1964 | SNP array | Probe signal intensity | nssv18326167, nssv18326070, nssv18325933 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18283195 | Remapped | Perfect | NC_000013.11:g.(?_ 113810701)_(113834 648_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 113,810,701 | 113,834,648 |
| nssv18284041 | Remapped | Perfect | NC_000013.11:g.(?_ 113810701)_(113834 648_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 113,810,701 | 113,834,648 |
| nssv18284889 | Remapped | Perfect | NC_000013.11:g.(?_ 113810701)_(113834 648_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 113,810,701 | 113,834,648 |
| nssv18285940 | Remapped | Perfect | NC_000013.11:g.(?_ 113810701)_(113834 648_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 113,810,701 | 113,834,648 |
| nssv18286006 | Remapped | Perfect | NC_000013.11:g.(?_ 113810701)_(113834 648_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 113,810,701 | 113,834,648 |
| nssv18287619 | Remapped | Perfect | NC_000013.11:g.(?_ 113810701)_(113834 648_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 113,810,701 | 113,834,648 |
| nssv18289029 | Remapped | Perfect | NC_000013.11:g.(?_ 113810701)_(113834 648_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 113,810,701 | 113,834,648 |
| nssv18289420 | Remapped | Perfect | NC_000013.11:g.(?_ 113810701)_(113834 648_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 113,810,701 | 113,834,648 |
| nssv18293448 | Remapped | Perfect | NC_000013.11:g.(?_ 113810701)_(113834 648_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 113,810,701 | 113,834,648 |
| nssv18293618 | Remapped | Perfect | NC_000013.11:g.(?_ 113810701)_(113834 648_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 113,810,701 | 113,834,648 |
| nssv18309181 | Remapped | Perfect | NC_000013.11:g.(?_ 113810701)_(113834 648_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 113,810,701 | 113,834,648 |
| nssv18309243 | Remapped | Perfect | NC_000013.11:g.(?_ 113810701)_(113834 648_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 113,810,701 | 113,834,648 |
| nssv18312621 | Remapped | Perfect | NC_000013.11:g.(?_ 113810701)_(113834 648_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 113,810,701 | 113,834,648 |
| nssv18319827 | Remapped | Perfect | NC_000013.11:g.(?_ 113810701)_(113834 648_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 113,810,701 | 113,834,648 |
| nssv18323619 | Remapped | Perfect | NC_000013.11:g.(?_ 113810701)_(113834 648_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 113,810,701 | 113,834,648 |
| nssv18325934 | Remapped | Perfect | NC_000013.11:g.(?_ 113810701)_(113834 648_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 113,810,701 | 113,834,648 |
| nssv18283195 | Submitted genomic | NC_000013.10:g.(?_ 114513674)_(114537 621_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,513,674 | 114,537,621 | ||
| nssv18284041 | Submitted genomic | NC_000013.10:g.(?_ 114513674)_(114537 621_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,513,674 | 114,537,621 | ||
| nssv18284889 | Submitted genomic | NC_000013.10:g.(?_ 114513674)_(114537 621_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,513,674 | 114,537,621 | ||
| nssv18285940 | Submitted genomic | NC_000013.10:g.(?_ 114513674)_(114537 621_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,513,674 | 114,537,621 | ||
| nssv18286006 | Submitted genomic | NC_000013.10:g.(?_ 114513674)_(114537 621_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,513,674 | 114,537,621 | ||
| nssv18287619 | Submitted genomic | NC_000013.10:g.(?_ 114513674)_(114537 621_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,513,674 | 114,537,621 | ||
| nssv18289029 | Submitted genomic | NC_000013.10:g.(?_ 114513674)_(114537 621_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,513,674 | 114,537,621 | ||
| nssv18289420 | Submitted genomic | NC_000013.10:g.(?_ 114513674)_(114537 621_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,513,674 | 114,537,621 | ||
| nssv18293448 | Submitted genomic | NC_000013.10:g.(?_ 114513674)_(114537 621_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,513,674 | 114,537,621 | ||
| nssv18293618 | Submitted genomic | NC_000013.10:g.(?_ 114513674)_(114537 621_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,513,674 | 114,537,621 | ||
| nssv18309181 | Submitted genomic | NC_000013.10:g.(?_ 114513674)_(114537 621_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,513,674 | 114,537,621 | ||
| nssv18309243 | Submitted genomic | NC_000013.10:g.(?_ 114513674)_(114537 621_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,513,674 | 114,537,621 | ||
| nssv18312621 | Submitted genomic | NC_000013.10:g.(?_ 114513674)_(114537 621_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,513,674 | 114,537,621 | ||
| nssv18319827 | Submitted genomic | NC_000013.10:g.(?_ 114513674)_(114537 621_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,513,674 | 114,537,621 | ||
| nssv18323619 | Submitted genomic | NC_000013.10:g.(?_ 114513674)_(114537 621_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,513,674 | 114,537,621 | ||
| nssv18325934 | Submitted genomic | NC_000013.10:g.(?_ 114513674)_(114537 621_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 114,513,674 | 114,537,621 |