nsv3919111
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:67,657,694
- Description:GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 161711 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 161173 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 41865 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919111 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 74,382,807 | 142,040,500 |
| nsv3919111 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 75,092,523 | 142,361,637 |
| nsv3919111 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 75,149,243 | 142,403,330 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148895 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139729.4, VCV000150937.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148895 | Submitted genomic | NC_000006.12:g.(?_ 74382807)_(1420405 00_?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 74,382,807 | 142,040,500 |
| nssv15148895 | Submitted genomic | NC_000006.11:g.(?_ 75092523)_(1423616 37_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 75,092,523 | 142,361,637 |
| nssv15148895 | Submitted genomic | NC_000006.10:g.(?_ 75149243)_(1424033 30_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 75,149,243 | 142,403,330 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148895 | GRCh37: NC_000006.11:g.(?_75092523)_(142361637_?)dup, GRCh38: NC_000006.12:g.(?_74382807)_(142040500_?)dup, NCBI36: NC_000006.10:g.(?_75149243)_(142403330_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000139729.4, VCV000150937.2 | 3 |