nsv3919521
- 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:7,876,475
- Description:GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)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: 18951 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 18949 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 4588 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919521 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 37,777,369 | 45,653,843 |
| nsv3919521 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 37,745,145 | 45,621,580 |
| nsv3919521 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 37,853,123 | 45,729,558 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120611 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052181.6, VCV000058427.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120611 | Submitted genomic | NC_000006.12:g.(?_ 37777369)_(4565384 3_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 37,777,369 | 45,653,843 |
| nssv15120611 | Submitted genomic | NC_000006.11:g.(?_ 37745145)_(4562158 0_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 37,745,145 | 45,621,580 |
| nssv15120611 | Submitted genomic | NC_000006.10:g.(?_ 37853123)_(4572955 8_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 37,853,123 | 45,729,558 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120611 | GRCh37: NC_000006.11:g.(?_37745145)_(45621580_?)del, GRCh38: NC_000006.12:g.(?_37777369)_(45653843_?)del, NCBI36: NC_000006.10:g.(?_37853123)_(45729558_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000052181.6, VCV000058427.1 | 1 |