nsv3318516
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:22
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,862
- 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: 512 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 512 SVs from 59 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3318516 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 63,651,294 | 63,662,155 |
| nsv3318516 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 64,225,427 | 64,236,288 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14467692 | copy number loss | M1336 | SNP array | SNP genotyping analysis | 19 |
| nssv14468126 | copy number loss | M2130 | SNP array | SNP genotyping analysis | 26 |
| nssv14468298 | copy number loss | M2138 | SNP array | SNP genotyping analysis | 27 |
| nssv14468337 | copy number loss | M2143 | SNP array | SNP genotyping analysis | 20 |
| nssv14469025 | copy number loss | M2196 | SNP array | SNP genotyping analysis | 17 |
| nssv14469044 | copy number loss | M2197 | SNP array | SNP genotyping analysis | 20 |
| nssv14469121 | copy number loss | M2203 | SNP array | SNP genotyping analysis | 16 |
| nssv14469186 | copy number loss | M2215 | SNP array | SNP genotyping analysis | 16 |
| nssv14469238 | copy number loss | M2218 | SNP array | SNP genotyping analysis | 21 |
| nssv14469371 | copy number loss | M2231 | SNP array | SNP genotyping analysis | 18 |
| nssv14469500 | copy number loss | M2243 | SNP array | SNP genotyping analysis | 24 |
| nssv14469519 | copy number loss | M2245 | SNP array | SNP genotyping analysis | 10 |
| nssv14469560 | copy number loss | M2249 | SNP array | SNP genotyping analysis | 21 |
| nssv14469790 | copy number loss | M2269 | SNP array | SNP genotyping analysis | 19 |
| nssv14470077 | copy number loss | M2306 | SNP array | SNP genotyping analysis | 19 |
| nssv14470268 | copy number loss | M2324 | SNP array | SNP genotyping analysis | 19 |
| nssv14470466 | copy number loss | M2342 | SNP array | SNP genotyping analysis | 13 |
| nssv14470568 | copy number loss | M2359 | SNP array | SNP genotyping analysis | 13 |
| nssv14470632 | copy number loss | M2363 | SNP array | SNP genotyping analysis | 22 |
| nssv14471634 | copy number loss | M2468 | SNP array | SNP genotyping analysis | 15 |
| nssv14471766 | copy number loss | M2492 | SNP array | SNP genotyping analysis | 19 |
| nssv14471982 | copy number loss | M2513 | SNP array | SNP genotyping analysis | 19 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14467692 | Remapped | Perfect | NC_000013.11:g.(?_ 63651294)_(6366215 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,651,294 | 63,662,155 |
| nssv14468126 | Remapped | Perfect | NC_000013.11:g.(?_ 63651294)_(6366215 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,651,294 | 63,662,155 |
| nssv14468298 | Remapped | Perfect | NC_000013.11:g.(?_ 63651294)_(6366215 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,651,294 | 63,662,155 |
| nssv14468337 | Remapped | Perfect | NC_000013.11:g.(?_ 63651294)_(6366215 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,651,294 | 63,662,155 |
| nssv14469025 | Remapped | Perfect | NC_000013.11:g.(?_ 63651294)_(6366215 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,651,294 | 63,662,155 |
| nssv14469044 | Remapped | Perfect | NC_000013.11:g.(?_ 63651294)_(6366215 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,651,294 | 63,662,155 |
| nssv14469121 | Remapped | Perfect | NC_000013.11:g.(?_ 63651294)_(6366215 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,651,294 | 63,662,155 |
| nssv14469186 | Remapped | Perfect | NC_000013.11:g.(?_ 63651294)_(6366215 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,651,294 | 63,662,155 |
| nssv14469238 | Remapped | Perfect | NC_000013.11:g.(?_ 63651294)_(6366215 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,651,294 | 63,662,155 |
| nssv14469371 | Remapped | Perfect | NC_000013.11:g.(?_ 63651294)_(6366215 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,651,294 | 63,662,155 |
| nssv14469500 | Remapped | Perfect | NC_000013.11:g.(?_ 63651294)_(6366215 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,651,294 | 63,662,155 |
| nssv14469519 | Remapped | Perfect | NC_000013.11:g.(?_ 63651294)_(6366215 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,651,294 | 63,662,155 |
| nssv14469560 | Remapped | Perfect | NC_000013.11:g.(?_ 63651294)_(6366215 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,651,294 | 63,662,155 |
| nssv14469790 | Remapped | Perfect | NC_000013.11:g.(?_ 63651294)_(6366215 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,651,294 | 63,662,155 |
| nssv14470077 | Remapped | Perfect | NC_000013.11:g.(?_ 63651294)_(6366215 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,651,294 | 63,662,155 |
| nssv14470268 | Remapped | Perfect | NC_000013.11:g.(?_ 63651294)_(6366215 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,651,294 | 63,662,155 |
| nssv14470466 | Remapped | Perfect | NC_000013.11:g.(?_ 63651294)_(6366215 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,651,294 | 63,662,155 |
| nssv14470568 | Remapped | Perfect | NC_000013.11:g.(?_ 63651294)_(6366215 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,651,294 | 63,662,155 |
| nssv14470632 | Remapped | Perfect | NC_000013.11:g.(?_ 63651294)_(6366215 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,651,294 | 63,662,155 |
| nssv14471634 | Remapped | Perfect | NC_000013.11:g.(?_ 63651294)_(6366215 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,651,294 | 63,662,155 |
| nssv14471766 | Remapped | Perfect | NC_000013.11:g.(?_ 63651294)_(6366215 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,651,294 | 63,662,155 |
| nssv14471982 | Remapped | Perfect | NC_000013.11:g.(?_ 63651294)_(6366215 5_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,651,294 | 63,662,155 |
| nssv14467692 | Submitted genomic | NC_000013.10:g.(?_ 64225427)_(6423628 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 64,225,427 | 64,236,288 | ||
| nssv14468126 | Submitted genomic | NC_000013.10:g.(?_ 64225427)_(6423628 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 64,225,427 | 64,236,288 | ||
| nssv14468298 | Submitted genomic | NC_000013.10:g.(?_ 64225427)_(6423628 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 64,225,427 | 64,236,288 | ||
| nssv14468337 | Submitted genomic | NC_000013.10:g.(?_ 64225427)_(6423628 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 64,225,427 | 64,236,288 | ||
| nssv14469025 | Submitted genomic | NC_000013.10:g.(?_ 64225427)_(6423628 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 64,225,427 | 64,236,288 | ||
| nssv14469044 | Submitted genomic | NC_000013.10:g.(?_ 64225427)_(6423628 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 64,225,427 | 64,236,288 | ||
| nssv14469121 | Submitted genomic | NC_000013.10:g.(?_ 64225427)_(6423628 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 64,225,427 | 64,236,288 | ||
| nssv14469186 | Submitted genomic | NC_000013.10:g.(?_ 64225427)_(6423628 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 64,225,427 | 64,236,288 | ||
| nssv14469238 | Submitted genomic | NC_000013.10:g.(?_ 64225427)_(6423628 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 64,225,427 | 64,236,288 | ||
| nssv14469371 | Submitted genomic | NC_000013.10:g.(?_ 64225427)_(6423628 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 64,225,427 | 64,236,288 | ||
| nssv14469500 | Submitted genomic | NC_000013.10:g.(?_ 64225427)_(6423628 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 64,225,427 | 64,236,288 | ||
| nssv14469519 | Submitted genomic | NC_000013.10:g.(?_ 64225427)_(6423628 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 64,225,427 | 64,236,288 | ||
| nssv14469560 | Submitted genomic | NC_000013.10:g.(?_ 64225427)_(6423628 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 64,225,427 | 64,236,288 | ||
| nssv14469790 | Submitted genomic | NC_000013.10:g.(?_ 64225427)_(6423628 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 64,225,427 | 64,236,288 | ||
| nssv14470077 | Submitted genomic | NC_000013.10:g.(?_ 64225427)_(6423628 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 64,225,427 | 64,236,288 | ||
| nssv14470268 | Submitted genomic | NC_000013.10:g.(?_ 64225427)_(6423628 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 64,225,427 | 64,236,288 | ||
| nssv14470466 | Submitted genomic | NC_000013.10:g.(?_ 64225427)_(6423628 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 64,225,427 | 64,236,288 | ||
| nssv14470568 | Submitted genomic | NC_000013.10:g.(?_ 64225427)_(6423628 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 64,225,427 | 64,236,288 | ||
| nssv14470632 | Submitted genomic | NC_000013.10:g.(?_ 64225427)_(6423628 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 64,225,427 | 64,236,288 | ||
| nssv14471634 | Submitted genomic | NC_000013.10:g.(?_ 64225427)_(6423628 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 64,225,427 | 64,236,288 | ||
| nssv14471766 | Submitted genomic | NC_000013.10:g.(?_ 64225427)_(6423628 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 64,225,427 | 64,236,288 | ||
| nssv14471982 | Submitted genomic | NC_000013.10:g.(?_ 64225427)_(6423628 8_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 64,225,427 | 64,236,288 |