nsv3318323
- 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:51,397
- 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: 669 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 669 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3318323 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 161,031,076 | 161,082,472 |
| nsv3318323 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 161,952,228 | 162,003,624 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14467826 | copy number gain | M2111 | SNP array | SNP genotyping analysis | 18 |
| nssv14468113 | copy number gain | M2129 | SNP array | SNP genotyping analysis | 38 |
| nssv14468434 | copy number gain | M2152 | SNP array | SNP genotyping analysis | 13 |
| nssv14469076 | copy number gain | M2198 | SNP array | SNP genotyping analysis | 24 |
| nssv14469830 | copy number gain | M2275 | SNP array | SNP genotyping analysis | 13 |
| nssv14469982 | copy number gain | M2292 | SNP array | SNP genotyping analysis | 17 |
| nssv14470151 | copy number gain | M2315 | SNP array | SNP genotyping analysis | 17 |
| nssv14470574 | copy number gain | M2359 | SNP array | SNP genotyping analysis | 13 |
| nssv14470804 | copy number gain | M2378 | SNP array | SNP genotyping analysis | 16 |
| nssv14470820 | copy number gain | M2383 | SNP array | SNP genotyping analysis | 23 |
| nssv14471420 | copy number gain | M2443 | SNP array | SNP genotyping analysis | 15 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14467826 | Remapped | Perfect | NC_000004.12:g.(?_ 161031076)_(161082 472_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 161,031,076 | 161,082,472 |
| nssv14468113 | Remapped | Perfect | NC_000004.12:g.(?_ 161031076)_(161082 472_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 161,031,076 | 161,082,472 |
| nssv14468434 | Remapped | Perfect | NC_000004.12:g.(?_ 161031076)_(161082 472_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 161,031,076 | 161,082,472 |
| nssv14469076 | Remapped | Perfect | NC_000004.12:g.(?_ 161031076)_(161082 472_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 161,031,076 | 161,082,472 |
| nssv14469830 | Remapped | Perfect | NC_000004.12:g.(?_ 161031076)_(161082 472_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 161,031,076 | 161,082,472 |
| nssv14469982 | Remapped | Perfect | NC_000004.12:g.(?_ 161031076)_(161082 472_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 161,031,076 | 161,082,472 |
| nssv14470151 | Remapped | Perfect | NC_000004.12:g.(?_ 161031076)_(161082 472_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 161,031,076 | 161,082,472 |
| nssv14470574 | Remapped | Perfect | NC_000004.12:g.(?_ 161031076)_(161082 472_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 161,031,076 | 161,082,472 |
| nssv14470804 | Remapped | Perfect | NC_000004.12:g.(?_ 161031076)_(161082 472_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 161,031,076 | 161,082,472 |
| nssv14470820 | Remapped | Perfect | NC_000004.12:g.(?_ 161031076)_(161082 472_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 161,031,076 | 161,082,472 |
| nssv14471420 | Remapped | Perfect | NC_000004.12:g.(?_ 161031076)_(161082 472_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 161,031,076 | 161,082,472 |
| nssv14467826 | Submitted genomic | NC_000004.11:g.(?_ 161952228)_(162003 624_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 161,952,228 | 162,003,624 | ||
| nssv14468113 | Submitted genomic | NC_000004.11:g.(?_ 161952228)_(162003 624_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 161,952,228 | 162,003,624 | ||
| nssv14468434 | Submitted genomic | NC_000004.11:g.(?_ 161952228)_(162003 624_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 161,952,228 | 162,003,624 | ||
| nssv14469076 | Submitted genomic | NC_000004.11:g.(?_ 161952228)_(162003 624_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 161,952,228 | 162,003,624 | ||
| nssv14469830 | Submitted genomic | NC_000004.11:g.(?_ 161952228)_(162003 624_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 161,952,228 | 162,003,624 | ||
| nssv14469982 | Submitted genomic | NC_000004.11:g.(?_ 161952228)_(162003 624_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 161,952,228 | 162,003,624 | ||
| nssv14470151 | Submitted genomic | NC_000004.11:g.(?_ 161952228)_(162003 624_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 161,952,228 | 162,003,624 | ||
| nssv14470574 | Submitted genomic | NC_000004.11:g.(?_ 161952228)_(162003 624_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 161,952,228 | 162,003,624 | ||
| nssv14470804 | Submitted genomic | NC_000004.11:g.(?_ 161952228)_(162003 624_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 161,952,228 | 162,003,624 | ||
| nssv14470820 | Submitted genomic | NC_000004.11:g.(?_ 161952228)_(162003 624_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 161,952,228 | 162,003,624 | ||
| nssv14471420 | Submitted genomic | NC_000004.11:g.(?_ 161952228)_(162003 624_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 161,952,228 | 162,003,624 |