nsv3924741
- 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:19,277,501
- Description:GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)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: 44913 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 44771 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 11052 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924741 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 106,503,719 | 125,781,219 |
| nsv3924741 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 106,951,594 | 126,102,365 |
| nsv3924741 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 107,058,287 | 126,144,058 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148922 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141587.6, VCV000153088.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148922 | Submitted genomic | NC_000006.12:g.(?_ 106503719)_(125781 219_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 106,503,719 | 125,781,219 |
| nssv15148922 | Submitted genomic | NC_000006.11:g.(?_ 106951594)_(126102 365_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 106,951,594 | 126,102,365 |
| nssv15148922 | Submitted genomic | NC_000006.10:g.(?_ 107058287)_(126144 058_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 107,058,287 | 126,144,058 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148922 | GRCh37: NC_000006.11:g.(?_106951594)_(126102365_?)del, GRCh38: NC_000006.12:g.(?_106503719)_(125781219_?)del, NCBI36: NC_000006.10:g.(?_107058287)_(126144058_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000141587.6, VCV000153088.2 | 1 |