nsv3317790
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:16,578
- 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: 296 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 296 SVs from 58 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3317790 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 227,376,905 | 227,393,482 |
| nsv3317790 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 228,241,621 | 228,258,198 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14467634 | copy number gain | M1153 | SNP array | SNP genotyping analysis | 12 |
| nssv14467846 | copy number gain | M2112 | SNP array | SNP genotyping analysis | 22 |
| nssv14467895 | copy number gain | M2115 | SNP array | SNP genotyping analysis | 19 |
| nssv14468566 | copy number gain | M2165 | SNP array | SNP genotyping analysis | 17 |
| nssv14468791 | copy number gain | M2181 | SNP array | SNP genotyping analysis | 14 |
| nssv14469137 | copy number gain | M2208 | SNP array | SNP genotyping analysis | 9 |
| nssv14469452 | copy number gain | M2238 | SNP array | SNP genotyping analysis | 12 |
| nssv14470083 | copy number gain | M2306 | SNP array | SNP genotyping analysis | 19 |
| nssv14470198 | copy number gain | M2320 | SNP array | SNP genotyping analysis | 20 |
| nssv14470572 | copy number gain | M2359 | SNP array | SNP genotyping analysis | 13 |
| nssv14470972 | copy number gain | M2396 | SNP array | SNP genotyping analysis | 16 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14467634 | Remapped | Perfect | NC_000002.12:g.(?_ 227376905)_(227393 482_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,376,905 | 227,393,482 |
| nssv14467846 | Remapped | Perfect | NC_000002.12:g.(?_ 227376905)_(227393 482_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,376,905 | 227,393,482 |
| nssv14467895 | Remapped | Perfect | NC_000002.12:g.(?_ 227376905)_(227393 482_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,376,905 | 227,393,482 |
| nssv14468566 | Remapped | Perfect | NC_000002.12:g.(?_ 227376905)_(227393 482_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,376,905 | 227,393,482 |
| nssv14468791 | Remapped | Perfect | NC_000002.12:g.(?_ 227376905)_(227393 482_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,376,905 | 227,393,482 |
| nssv14469137 | Remapped | Perfect | NC_000002.12:g.(?_ 227376905)_(227393 482_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,376,905 | 227,393,482 |
| nssv14469452 | Remapped | Perfect | NC_000002.12:g.(?_ 227376905)_(227393 482_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,376,905 | 227,393,482 |
| nssv14470083 | Remapped | Perfect | NC_000002.12:g.(?_ 227376905)_(227393 482_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,376,905 | 227,393,482 |
| nssv14470198 | Remapped | Perfect | NC_000002.12:g.(?_ 227376905)_(227393 482_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,376,905 | 227,393,482 |
| nssv14470572 | Remapped | Perfect | NC_000002.12:g.(?_ 227376905)_(227393 482_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,376,905 | 227,393,482 |
| nssv14470972 | Remapped | Perfect | NC_000002.12:g.(?_ 227376905)_(227393 482_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 227,376,905 | 227,393,482 |
| nssv14467634 | Submitted genomic | NC_000002.11:g.(?_ 228241621)_(228258 198_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 228,241,621 | 228,258,198 | ||
| nssv14467846 | Submitted genomic | NC_000002.11:g.(?_ 228241621)_(228258 198_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 228,241,621 | 228,258,198 | ||
| nssv14467895 | Submitted genomic | NC_000002.11:g.(?_ 228241621)_(228258 198_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 228,241,621 | 228,258,198 | ||
| nssv14468566 | Submitted genomic | NC_000002.11:g.(?_ 228241621)_(228258 198_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 228,241,621 | 228,258,198 | ||
| nssv14468791 | Submitted genomic | NC_000002.11:g.(?_ 228241621)_(228258 198_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 228,241,621 | 228,258,198 | ||
| nssv14469137 | Submitted genomic | NC_000002.11:g.(?_ 228241621)_(228258 198_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 228,241,621 | 228,258,198 | ||
| nssv14469452 | Submitted genomic | NC_000002.11:g.(?_ 228241621)_(228258 198_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 228,241,621 | 228,258,198 | ||
| nssv14470083 | Submitted genomic | NC_000002.11:g.(?_ 228241621)_(228258 198_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 228,241,621 | 228,258,198 | ||
| nssv14470198 | Submitted genomic | NC_000002.11:g.(?_ 228241621)_(228258 198_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 228,241,621 | 228,258,198 | ||
| nssv14470572 | Submitted genomic | NC_000002.11:g.(?_ 228241621)_(228258 198_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 228,241,621 | 228,258,198 | ||
| nssv14470972 | Submitted genomic | NC_000002.11:g.(?_ 228241621)_(228258 198_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 228,241,621 | 228,258,198 |