nsv3914809
- 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:362,591
- Description:GRCh38/hg38 6p12.3(chr6:48497131-48859721)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: 988 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 973 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 205 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914809 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 48,497,131 | 48,859,721 |
| nsv3914809 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 48,464,867 | 48,827,358 |
| nsv3914809 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 48,572,826 | 48,935,317 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120886 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000134602.3, VCV000145200.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120886 | Submitted genomic | NC_000006.12:g.(?_ 48497131)_(4885972 1_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 48,497,131 | 48,859,721 |
| nssv15120886 | Submitted genomic | NC_000006.11:g.(?_ 48464867)_(4882735 8_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 48,464,867 | 48,827,358 |
| nssv15120886 | Submitted genomic | NC_000006.10:g.(?_ 48572826)_(4893531 7_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 48,572,826 | 48,935,317 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120886 | GRCh37: NC_000006.11:g.(?_48464867)_(48827358_?)del, GRCh38: NC_000006.12:g.(?_48497131)_(48859721_?)del, NCBI36: NC_000006.10:g.(?_48572826)_(48935317_?)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000134602.3, VCV000145200.1 | 1 |