nsv3922315
- 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:6,461,607
- Description:GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1 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: 16829 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 16816 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 4362 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922315 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 50,971,182 | 57,432,788 |
| nsv3922315 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 50,938,895 | 57,297,586 |
| nsv3922315 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 51,046,854 | 57,405,545 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147277 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134922.5, VCV000145584.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147277 | Submitted genomic | NC_000006.12:g.(?_ 50971182)_(5743278 8_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 50,971,182 | 57,432,788 |
| nssv15147277 | Submitted genomic | NC_000006.11:g.(?_ 50938895)_(5729758 6_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 50,938,895 | 57,297,586 |
| nssv15147277 | Submitted genomic | NC_000006.10:g.(?_ 51046854)_(5740554 5_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 51,046,854 | 57,405,545 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147277 | GRCh37: NC_000006.11:g.(?_50938895)_(57297586_?)del, GRCh38: NC_000006.12:g.(?_50971182)_(57432788_?)del, NCBI36: NC_000006.10:g.(?_51046854)_(57405545_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000134922.5, VCV000145584.2 | 1 |