nsv3912779
- 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:5,712,320
- Description:GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)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: 19713 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 19704 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 5504 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 |
|---|---|---|---|---|---|---|---|
| nsv3912779 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 163,083 | 5,875,402 |
| nsv3912779 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 163,083 | 5,875,635 |
| nsv3912779 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 108,083 | 5,820,634 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132439 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052161.6, VCV000058407.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132439 | Submitted genomic | NC_000006.12:g.(?_ 163083)_(5875402_? )del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 163,083 | 5,875,402 |
| nssv15132439 | Submitted genomic | NC_000006.11:g.(?_ 163083)_(5875635_? )del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 163,083 | 5,875,635 |
| nssv15132439 | Submitted genomic | NC_000006.10:g.(?_ 108083)_(5820634_? )del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 108,083 | 5,820,634 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132439 | GRCh37: NC_000006.11:g.(?_163083)_(5875635_?)del, GRCh38: NC_000006.12:g.(?_163083)_(5875402_?)del, NCBI36: NC_000006.10:g.(?_108083)_(5820634_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052161.6, VCV000058407.1 | 1 |