nsv3910455
- 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:2,765,881
- Description:GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4 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: 6875 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 6756 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 1702 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910455 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 51,093,754 | 53,859,634 |
| nsv3910455 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 51,061,467 | 53,724,432 |
| nsv3910455 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 51,169,426 | 53,832,391 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145848 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137095.4, VCV000147999.2 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145848 | Submitted genomic | NC_000006.12:g.(?_ 51093754)_(5385963 4_?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 51,093,754 | 53,859,634 |
| nssv15145848 | Submitted genomic | NC_000006.11:g.(?_ 51061467)_(5372443 2_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 51,061,467 | 53,724,432 |
| nssv15145848 | Submitted genomic | NC_000006.10:g.(?_ 51169426)_(5383239 1_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 51,169,426 | 53,832,391 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145848 | GRCh37: NC_000006.11:g.(?_51061467)_(53724432_?)dup, GRCh38: NC_000006.12:g.(?_51093754)_(53859634_?)dup, NCBI36: NC_000006.10:g.(?_51169426)_(53832391_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000137095.4, VCV000147999.2 | 4 |