nsv3890386
- 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:1,301,373
- Description:GRCh38/hg38 1p34.3(chr1:34753938-36055310)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: 3095 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 3095 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 499 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3890386 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 34,753,938 | 36,055,310 |
| nsv3890386 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 35,219,539 | 36,520,911 |
| nsv3890386 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 34,992,126 | 36,293,498 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145879 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000137966.4, VCV000148904.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145879 | Submitted genomic | NC_000001.11:g.(?_ 34753938)_(3605531 0_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 34,753,938 | 36,055,310 |
| nssv15145879 | Submitted genomic | NC_000001.10:g.(?_ 35219539)_(3652091 1_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 35,219,539 | 36,520,911 |
| nssv15145879 | Submitted genomic | NC_000001.9:g.(?_3 4992126)_(36293498 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 34,992,126 | 36,293,498 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145879 | GRCh37: NC_000001.10:g.(?_35219539)_(36520911_?)del, GRCh38: NC_000001.11:g.(?_34753938)_(36055310_?)del, NCBI36: NC_000001.9:g.(?_34992126)_(36293498_?)del | copy number loss | de novo | See cases | Likely pathogenic | ClinVar | RCV000137966.4, VCV000148904.2 | 1 |