nsv3921491
- 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:11,157,363
- Description:GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)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: 43142 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 42382 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 10501 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 |
|---|---|---|---|---|---|---|---|
| nsv3921491 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 159,454,639 | 170,612,001 |
| nsv3921491 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 159,875,671 | 170,921,089 |
| nsv3921491 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 159,795,661 | 170,763,014 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132184 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052209.6, VCV000058455.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132184 | Submitted genomic | NC_000006.12:g.(?_ 159454639)_(170612 001_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 159,454,639 | 170,612,001 |
| nssv15132184 | Submitted genomic | NC_000006.11:g.(?_ 159875671)_(170921 089_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 159,875,671 | 170,921,089 |
| nssv15132184 | Submitted genomic | NC_000006.10:g.(?_ 159795661)_(170763 014_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 159,795,661 | 170,763,014 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132184 | GRCh37: NC_000006.11:g.(?_159875671)_(170921089_?)del, GRCh38: NC_000006.12:g.(?_159454639)_(170612001_?)del, NCBI36: NC_000006.10:g.(?_159795661)_(170763014_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052209.6, VCV000058455.1 | 1 |