nsv3317666
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:21
- Validation:Not tested
- Clinical Assertions: No
- Region Size:167,697
- 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: 2284 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 2247 SVs from 83 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3317666 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 10,629,418 | 10,797,114 |
| nsv3317666 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 10,715,343 | 10,883,039 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14467729 | copy number gain | M2101 | SNP array | SNP genotyping analysis | 20 |
| nssv14467929 | copy number loss | M2117 | SNP array | SNP genotyping analysis | 13 |
| nssv14468155 | copy number loss | M2132 | SNP array | SNP genotyping analysis | 25 |
| nssv14468363 | copy number loss | M2145 | SNP array | SNP genotyping analysis | 16 |
| nssv14468462 | copy number loss | M2157 | SNP array | SNP genotyping analysis | 20 |
| nssv14468788 | copy number gain | M2181 | SNP array | SNP genotyping analysis | 14 |
| nssv14468934 | copy number loss | M2191 | SNP array | SNP genotyping analysis | 24 |
| nssv14468975 | copy number loss | M2193 | SNP array | SNP genotyping analysis | 17 |
| nssv14469427 | copy number loss | M2236 | SNP array | SNP genotyping analysis | 17 |
| nssv14469506 | copy number loss | M2243 | SNP array | SNP genotyping analysis | 24 |
| nssv14469565 | copy number gain | M2249 | SNP array | SNP genotyping analysis | 21 |
| nssv14469683 | copy number loss | M2258 | SNP array | SNP genotyping analysis | 31 |
| nssv14470063 | copy number loss | M2304 | SNP array | SNP genotyping analysis | 18 |
| nssv14470840 | copy number gain | M2386 | SNP array | SNP genotyping analysis | 20 |
| nssv14471015 | copy number loss | M2399 | SNP array | SNP genotyping analysis | 15 |
| nssv14471094 | copy number loss | M2406 | SNP array | SNP genotyping analysis | 18 |
| nssv14471178 | copy number loss | M2420 | SNP array | SNP genotyping analysis | 24 |
| nssv14471230 | copy number loss | M2423 | SNP array | SNP genotyping analysis | 15 |
| nssv14471447 | copy number loss | M2452 | SNP array | SNP genotyping analysis | 23 |
| nssv14471514 | copy number gain | M2459 | SNP array | SNP genotyping analysis | 14 |
| nssv14471882 | copy number loss | M2501 | SNP array | SNP genotyping analysis | 18 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14467729 | Remapped | Perfect | NC_000021.9:g.(?_1 0629418)_(10797114 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,418 | 10,797,114 |
| nssv14467929 | Remapped | Perfect | NC_000021.9:g.(?_1 0629418)_(10797114 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,418 | 10,797,114 |
| nssv14468155 | Remapped | Perfect | NC_000021.9:g.(?_1 0629418)_(10797114 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,418 | 10,797,114 |
| nssv14468363 | Remapped | Perfect | NC_000021.9:g.(?_1 0629418)_(10797114 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,418 | 10,797,114 |
| nssv14468462 | Remapped | Perfect | NC_000021.9:g.(?_1 0629418)_(10797114 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,418 | 10,797,114 |
| nssv14468788 | Remapped | Perfect | NC_000021.9:g.(?_1 0629418)_(10797114 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,418 | 10,797,114 |
| nssv14468934 | Remapped | Perfect | NC_000021.9:g.(?_1 0629418)_(10797114 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,418 | 10,797,114 |
| nssv14468975 | Remapped | Perfect | NC_000021.9:g.(?_1 0629418)_(10797114 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,418 | 10,797,114 |
| nssv14469427 | Remapped | Perfect | NC_000021.9:g.(?_1 0629418)_(10797114 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,418 | 10,797,114 |
| nssv14469506 | Remapped | Perfect | NC_000021.9:g.(?_1 0629418)_(10797114 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,418 | 10,797,114 |
| nssv14469565 | Remapped | Perfect | NC_000021.9:g.(?_1 0629418)_(10797114 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,418 | 10,797,114 |
| nssv14469683 | Remapped | Perfect | NC_000021.9:g.(?_1 0629418)_(10797114 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,418 | 10,797,114 |
| nssv14470063 | Remapped | Perfect | NC_000021.9:g.(?_1 0629418)_(10797114 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,418 | 10,797,114 |
| nssv14470840 | Remapped | Perfect | NC_000021.9:g.(?_1 0629418)_(10797114 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,418 | 10,797,114 |
| nssv14471015 | Remapped | Perfect | NC_000021.9:g.(?_1 0629418)_(10797114 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,418 | 10,797,114 |
| nssv14471094 | Remapped | Perfect | NC_000021.9:g.(?_1 0629418)_(10797114 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,418 | 10,797,114 |
| nssv14471178 | Remapped | Perfect | NC_000021.9:g.(?_1 0629418)_(10797114 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,418 | 10,797,114 |
| nssv14471230 | Remapped | Perfect | NC_000021.9:g.(?_1 0629418)_(10797114 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,418 | 10,797,114 |
| nssv14471447 | Remapped | Perfect | NC_000021.9:g.(?_1 0629418)_(10797114 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,418 | 10,797,114 |
| nssv14471514 | Remapped | Perfect | NC_000021.9:g.(?_1 0629418)_(10797114 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,418 | 10,797,114 |
| nssv14471882 | Remapped | Perfect | NC_000021.9:g.(?_1 0629418)_(10797114 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,629,418 | 10,797,114 |
| nssv14467729 | Submitted genomic | NC_000021.8:g.(?_1 0715343)_(10883039 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,715,343 | 10,883,039 | ||
| nssv14467929 | Submitted genomic | NC_000021.8:g.(?_1 0715343)_(10883039 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,715,343 | 10,883,039 | ||
| nssv14468155 | Submitted genomic | NC_000021.8:g.(?_1 0715343)_(10883039 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,715,343 | 10,883,039 | ||
| nssv14468363 | Submitted genomic | NC_000021.8:g.(?_1 0715343)_(10883039 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,715,343 | 10,883,039 | ||
| nssv14468462 | Submitted genomic | NC_000021.8:g.(?_1 0715343)_(10883039 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,715,343 | 10,883,039 | ||
| nssv14468788 | Submitted genomic | NC_000021.8:g.(?_1 0715343)_(10883039 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,715,343 | 10,883,039 | ||
| nssv14468934 | Submitted genomic | NC_000021.8:g.(?_1 0715343)_(10883039 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,715,343 | 10,883,039 | ||
| nssv14468975 | Submitted genomic | NC_000021.8:g.(?_1 0715343)_(10883039 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,715,343 | 10,883,039 | ||
| nssv14469427 | Submitted genomic | NC_000021.8:g.(?_1 0715343)_(10883039 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,715,343 | 10,883,039 | ||
| nssv14469506 | Submitted genomic | NC_000021.8:g.(?_1 0715343)_(10883039 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,715,343 | 10,883,039 | ||
| nssv14469565 | Submitted genomic | NC_000021.8:g.(?_1 0715343)_(10883039 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,715,343 | 10,883,039 | ||
| nssv14469683 | Submitted genomic | NC_000021.8:g.(?_1 0715343)_(10883039 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,715,343 | 10,883,039 | ||
| nssv14470063 | Submitted genomic | NC_000021.8:g.(?_1 0715343)_(10883039 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,715,343 | 10,883,039 | ||
| nssv14470840 | Submitted genomic | NC_000021.8:g.(?_1 0715343)_(10883039 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,715,343 | 10,883,039 | ||
| nssv14471015 | Submitted genomic | NC_000021.8:g.(?_1 0715343)_(10883039 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,715,343 | 10,883,039 | ||
| nssv14471094 | Submitted genomic | NC_000021.8:g.(?_1 0715343)_(10883039 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,715,343 | 10,883,039 | ||
| nssv14471178 | Submitted genomic | NC_000021.8:g.(?_1 0715343)_(10883039 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,715,343 | 10,883,039 | ||
| nssv14471230 | Submitted genomic | NC_000021.8:g.(?_1 0715343)_(10883039 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,715,343 | 10,883,039 | ||
| nssv14471447 | Submitted genomic | NC_000021.8:g.(?_1 0715343)_(10883039 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,715,343 | 10,883,039 | ||
| nssv14471514 | Submitted genomic | NC_000021.8:g.(?_1 0715343)_(10883039 _?)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,715,343 | 10,883,039 | ||
| nssv14471882 | Submitted genomic | NC_000021.8:g.(?_1 0715343)_(10883039 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,715,343 | 10,883,039 |