nsv3924318
- 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:2,221,987
- Description:GRCh38/hg38 6p21.1(chr6:42368558-44590544)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: 5974 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 5974 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 1278 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924318 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 42,368,558 | 44,590,544 |
| nsv3924318 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 42,336,296 | 44,558,281 |
| nsv3924318 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 42,444,274 | 44,666,259 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132649 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051011.4, VCV000057326.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132649 | Submitted genomic | NC_000006.12:g.(?_ 42368558)_(4459054 4_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 42,368,558 | 44,590,544 |
| nssv15132649 | Submitted genomic | NC_000006.11:g.(?_ 42336296)_(4455828 1_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 42,336,296 | 44,558,281 |
| nssv15132649 | Submitted genomic | NC_000006.10:g.(?_ 42444274)_(4466625 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 42,444,274 | 44,666,259 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132649 | GRCh37: NC_000006.11:g.(?_42336296)_(44558281_?)del, GRCh38: NC_000006.12:g.(?_42368558)_(44590544_?)del, NCBI36: NC_000006.10:g.(?_42444274)_(44666259_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051011.4, VCV000057326.1 | 1 |