nsv6625424
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:26
- Validation:Not tested
- Clinical Assertions: No
- Region Size:77,982
- 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: 758 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 758 SVs from 80 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6625424 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nsv6625424 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18281761 | deletion | OSC2132 | SNP array | Probe signal intensity | 6 |
nssv18281788 | duplication | OSC2157 | SNP array | Probe signal intensity | 5 |
nssv18285095 | duplication | OSC2521 | SNP array | Probe signal intensity | 7 |
nssv18285642 | duplication | OSC2748 | SNP array | Probe signal intensity | nssv18285643, nssv18286330, nssv18286331 |
nssv18285694 | duplication | OSC2794 | SNP array | Probe signal intensity | nssv18285483, nssv18286072, nssv18286073 |
nssv18286981 | duplication | OSC3050 | SNP array | Probe signal intensity | 7 |
nssv18287633 | duplication | OSC3030 | SNP array | Probe signal intensity | 9 |
nssv18289627 | duplication | OSC3592 | SNP array | Probe signal intensity | 7 |
nssv18292392 | duplication | OSC3999 | SNP array | Probe signal intensity | 5 |
nssv18293150 | duplication | OSC4131 | SNP array | Probe signal intensity | 8 |
nssv18293225 | duplication | OSC4184 | SNP array | Probe signal intensity | 8 |
nssv18296239 | duplication | OSC4552 | SNP array | Probe signal intensity | nssv18295343, nssv18295899 |
nssv18297407 | duplication | OSC4729 | SNP array | Probe signal intensity | 5 |
nssv18297462 | duplication | OSC4766 | SNP array | Probe signal intensity | 6 |
nssv18297779 | duplication | OSC4991 | SNP array | Probe signal intensity | nssv18298681, nssv18298680, nssv18297778 |
nssv18298842 | duplication | OSC5116 | SNP array | Probe signal intensity | nssv18298522, nssv18298878 |
nssv18299565 | duplication | OSC5196 | SNP array | Probe signal intensity | 7 |
nssv18302359 | duplication | OSC5698 | SNP array | Probe signal intensity | 6 |
nssv18315374 | duplication | OSC8071 | SNP array | Probe signal intensity | 8 |
nssv18317210 | duplication | OSC0871 | SNP array | Probe signal intensity | nssv18317206, nssv18316969, nssv18316716 |
nssv18318668 | duplication | OSC0903 | SNP array | Probe signal intensity | 8 |
nssv18320234 | duplication | OSC0925 | SNP array | Probe signal intensity | 13 |
nssv18320352 | duplication | OSC0996 | SNP array | Probe signal intensity | nssv18320605, nssv18320353 |
nssv18321115 | deletion | OSC1165 | SNP array | Probe signal intensity | 5 |
nssv18321291 | duplication | OSC1277 | SNP array | Probe signal intensity | 6 |
nssv18324243 | duplication | OSC1617 | SNP array | Probe signal intensity | nssv18323962, nssv18324526, nssv18324527 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18281761 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18281788 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18285095 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18285642 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18285694 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18286981 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18287633 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18289627 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18292392 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18293150 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18293225 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18296239 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18297407 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18297462 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18297779 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18298842 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18299565 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18302359 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18315374 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18317210 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18318668 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18320234 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18320352 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18321115 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18321291 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18324243 | Remapped | Good | NC_000019.10:g.(?_ 53429042)_(5350702 3_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 53,429,042 | 53,507,023 |
nssv18281761 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18281788 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18285095 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18285642 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18285694 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18286981 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18287633 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18289627 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18292392 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18293150 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18293225 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18296239 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18297407 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18297462 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18297779 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18298842 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18299565 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18302359 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18315374 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18317210 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18318668 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18320234 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18320352 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18321115 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18321291 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 | ||
nssv18324243 | Submitted genomic | NC_000019.9:g.(?_5 3932295)_(54010277 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 53,932,295 | 54,010,277 |