nsv4387190
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:20
- Validation:Not tested
- Clinical Assertions: No
- Region Size:45,213
- Publication(s):Zarrei 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: 1262 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1262 SVs from 86 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4387190 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 257,049 | 302,261 |
| nsv4387190 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 257,049 | 302,261 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15616480 | copy number gain | 1-0004-001 | SNP array | Genotyping | 18 |
| nssv15622143 | copy number loss | 1-1050-003 | SNP array | Genotyping | 18 |
| nssv15622564 | copy number gain | 1-0231-002 | SNP array | Genotyping | 31 |
| nssv15623162 | copy number gain | 1-0224-001 | SNP array | Genotyping | 29 |
| nssv15624948 | copy number gain | 1-0045-004 | SNP array | Genotyping | 27 |
| nssv15628002 | copy number gain | 1-0517-003 | SNP array | Genotyping | 23 |
| nssv15632909 | copy number gain | 10-1031-004 | SNP array | Genotyping | 17 |
| nssv15635538 | copy number gain | 12-4453-004 | SNP array | Genotyping | 24 |
| nssv15649118 | copy number gain | 2-1246-003 | SNP array | Genotyping | 20 |
| nssv15649667 | copy number loss | 2-1325-003 | SNP array | Genotyping | 20 |
| nssv15658858 | copy number gain | 3-0627-000 | SNP array | Genotyping | 19 |
| nssv15665862 | copy number gain | 7-0100-003 | SNP array | Genotyping | 16 |
| nssv15669843 | copy number gain | 7-0251-003 | SNP array | Genotyping | 21 |
| nssv15677331 | copy number gain | 242264S | SNP array | Genotyping | 22 |
| nssv15679192 | copy number gain | 184227 | SNP array | Genotyping | 19 |
| nssv15679919 | copy number gain | 218111 | SNP array | Genotyping | 26 |
| nssv15683054 | copy number gain | 235982S | SNP array | Genotyping | 26 |
| nssv15689989 | copy number loss | OCD1162-S_0625-9550-2 | SNP array | Genotyping | 17 |
| nssv15696166 | copy number gain | 199163 | SNP array | Genotyping | 25 |
| nssv15701796 | copy number loss | 204190 | SNP array | Genotyping | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15616480 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 302,261 |
| nssv15622143 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(302261_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 302,261 |
| nssv15622564 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 302,261 |
| nssv15623162 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 302,261 |
| nssv15624948 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 302,261 |
| nssv15628002 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 302,261 |
| nssv15632909 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 302,261 |
| nssv15635538 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 302,261 |
| nssv15649118 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 302,261 |
| nssv15649667 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(302261_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 302,261 |
| nssv15658858 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 302,261 |
| nssv15665862 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 302,261 |
| nssv15669843 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 302,261 |
| nssv15677331 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 302,261 |
| nssv15679192 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 302,261 |
| nssv15679919 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 302,261 |
| nssv15683054 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 302,261 |
| nssv15689989 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(302261_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 302,261 |
| nssv15696166 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(302261_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 302,261 |
| nssv15701796 | Remapped | Perfect | NC_000006.12:g.(?_ 257049)_(302261_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,049 | 302,261 |
| nssv15616480 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 302,261 | ||
| nssv15622143 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(302261_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 302,261 | ||
| nssv15622564 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 302,261 | ||
| nssv15623162 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 302,261 | ||
| nssv15624948 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 302,261 | ||
| nssv15628002 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 302,261 | ||
| nssv15632909 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 302,261 | ||
| nssv15635538 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 302,261 | ||
| nssv15649118 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 302,261 | ||
| nssv15649667 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(302261_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 302,261 | ||
| nssv15658858 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 302,261 | ||
| nssv15665862 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 302,261 | ||
| nssv15669843 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 302,261 | ||
| nssv15677331 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 302,261 | ||
| nssv15679192 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 302,261 | ||
| nssv15679919 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 302,261 | ||
| nssv15683054 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 302,261 | ||
| nssv15689989 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(302261_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 302,261 | ||
| nssv15696166 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(302261_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 302,261 | ||
| nssv15701796 | Submitted genomic | NC_000006.11:g.(?_ 257049)_(302261_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,049 | 302,261 |