nsv3921817
- 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:13,835,149
- Description:GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)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: 37763 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 37762 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 10492 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921817 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 2,862,640 | 16,697,788 |
| nsv3921817 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 2,862,874 | 16,698,019 |
| nsv3921817 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 2,807,873 | 16,805,998 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138988 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142435.6, VCV000154368.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138988 | Submitted genomic | NC_000006.12:g.(?_ 2862640)_(16697788 _?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 2,862,640 | 16,697,788 |
| nssv15138988 | Submitted genomic | NC_000006.11:g.(?_ 2862874)_(16698019 _?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 2,862,874 | 16,698,019 |
| nssv15138988 | Submitted genomic | NC_000006.10:g.(?_ 2807873)_(16805998 _?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 2,807,873 | 16,805,998 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138988 | GRCh37: NC_000006.11:g.(?_2862874)_(16698019_?)del, GRCh38: NC_000006.12:g.(?_2862640)_(16697788_?)del, NCBI36: NC_000006.10:g.(?_2807873)_(16805998_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142435.6, VCV000154368.2 | 1 |