nsv3914499
- 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:894,406
- Description:GRCh38/hg38 6q27(chr6:169688809-170583214)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: 5724 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 5183 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1084 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914499 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 169,688,809 | 170,583,214 |
| nsv3914499 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 170,088,905 | 170,892,302 |
| nsv3914499 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 169,830,830 | 170,734,227 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136246 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136831.4, VCV000147670.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136246 | Submitted genomic | NC_000006.12:g.(?_ 169688809)_(170583 214_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 169,688,809 | 170,583,214 |
| nssv15136246 | Submitted genomic | NC_000006.11:g.(?_ 170088905)_(170892 302_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 170,088,905 | 170,892,302 |
| nssv15136246 | Submitted genomic | NC_000006.10:g.(?_ 169830830)_(170734 227_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 169,830,830 | 170,734,227 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136246 | GRCh37: NC_000006.11:g.(?_170088905)_(170892302_?)del, GRCh38: NC_000006.12:g.(?_169688809)_(170583214_?)del, NCBI36: NC_000006.10:g.(?_169830830)_(170734227_?)del | copy number loss | tested-inconclusive | See cases | Pathogenic | ClinVar | RCV000136831.4, VCV000147670.2 | 1 |