nsv3318502
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:31
- Validation:Not tested
- Clinical Assertions: No
- Region Size:7,239
- Publication(s):Frenkel et al. 2019
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: 265 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 265 SVs from 51 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3318502 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nsv3318502 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14468436 | copy number loss | M2152 | SNP array | SNP genotyping analysis | 13 |
| nssv14468752 | copy number loss | M2178 | SNP array | SNP genotyping analysis | 15 |
| nssv14468771 | copy number loss | M2179 | SNP array | SNP genotyping analysis | 19 |
| nssv14468884 | copy number loss | M2187 | SNP array | SNP genotyping analysis | 20 |
| nssv14469004 | copy number loss | M2194 | SNP array | SNP genotyping analysis | 21 |
| nssv14469256 | copy number loss | M2218 | SNP array | SNP genotyping analysis | 21 |
| nssv14469339 | copy number loss | M2225 | SNP array | SNP genotyping analysis | 19 |
| nssv14469557 | copy number loss | M2248 | SNP array | SNP genotyping analysis | 10 |
| nssv14469663 | copy number loss | M2257 | SNP array | SNP genotyping analysis | 24 |
| nssv14469807 | copy number loss | M2269 | SNP array | SNP genotyping analysis | 19 |
| nssv14469935 | copy number loss | M2290 | SNP array | SNP genotyping analysis | 16 |
| nssv14470005 | copy number loss | M2296 | SNP array | SNP genotyping analysis | 15 |
| nssv14470041 | copy number loss | M2299 | SNP array | SNP genotyping analysis | 17 |
| nssv14470126 | copy number loss | M2309 | SNP array | SNP genotyping analysis | 18 |
| nssv14470158 | copy number loss | M2315 | SNP array | SNP genotyping analysis | 17 |
| nssv14470553 | copy number loss | M2356 | SNP array | SNP genotyping analysis | 15 |
| nssv14470649 | copy number loss | M2363 | SNP array | SNP genotyping analysis | 22 |
| nssv14470672 | copy number loss | M2366 | SNP array | SNP genotyping analysis | 23 |
| nssv14470748 | copy number loss | M2372 | SNP array | SNP genotyping analysis | 17 |
| nssv14470849 | copy number loss | M2386 | SNP array | SNP genotyping analysis | 20 |
| nssv14470882 | copy number loss | M2388 | SNP array | SNP genotyping analysis | 18 |
| nssv14471369 | copy number loss | M2435 | SNP array | SNP genotyping analysis | 22 |
| nssv14471503 | copy number loss | M2456 | SNP array | SNP genotyping analysis | 29 |
| nssv14471734 | copy number loss | M2484 | SNP array | SNP genotyping analysis | 18 |
| nssv14471782 | copy number loss | M2492 | SNP array | SNP genotyping analysis | 19 |
| nssv14471872 | copy number loss | M2498 | SNP array | SNP genotyping analysis | 22 |
| nssv14471890 | copy number loss | M2501 | SNP array | SNP genotyping analysis | 18 |
| nssv14471906 | copy number loss | M2502 | SNP array | SNP genotyping analysis | 16 |
| nssv14471921 | copy number loss | M2505 | SNP array | SNP genotyping analysis | 15 |
| nssv14471936 | copy number loss | M2506 | SNP array | SNP genotyping analysis | 15 |
| nssv14471976 | copy number loss | M2512 | SNP array | SNP genotyping analysis | 22 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14468436 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14468752 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14468771 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14468884 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14469004 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14469256 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14469339 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14469557 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14469663 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14469807 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14469935 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14470005 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14470041 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14470126 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14470158 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14470553 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14470649 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14470672 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14470748 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14470849 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14470882 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14471369 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14471503 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14471734 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14471782 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14471872 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14471890 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14471906 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14471921 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14471936 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14471976 | Remapped | Perfect | NC_000009.12:g.(?_ 75389462)_(7539670 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 75,389,462 | 75,396,700 |
| nssv14468436 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14468752 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14468771 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14468884 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14469004 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14469256 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14469339 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14469557 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14469663 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14469807 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14469935 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14470005 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14470041 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14470126 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14470158 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14470553 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14470649 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14470672 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14470748 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14470849 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14470882 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14471369 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14471503 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14471734 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14471782 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14471872 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14471890 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14471906 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14471921 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14471936 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 | ||
| nssv14471976 | Submitted genomic | NC_000009.11:g.(?_ 78004378)_(7801161 6_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 78,004,378 | 78,011,616 |