nsv3891425
- 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:4,697,988
- Description:GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)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: 12710 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 12676 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 2502 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3891425 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 28,424,867 | 33,122,854 |
| nsv3891425 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 28,751,378 | 33,588,455 |
| nsv3891425 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 28,623,965 | 33,361,042 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147288 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135447.6, VCV000146124.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147288 | Submitted genomic | NC_000001.11:g.(?_ 28424867)_(3312285 4_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 28,424,867 | 33,122,854 |
| nssv15147288 | Submitted genomic | NC_000001.10:g.(?_ 28751378)_(3358845 5_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 28,751,378 | 33,588,455 |
| nssv15147288 | Submitted genomic | NC_000001.9:g.(?_2 8623965)_(33361042 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 28,623,965 | 33,361,042 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147288 | GRCh37: NC_000001.10:g.(?_28751378)_(33588455_?)del, GRCh38: NC_000001.11:g.(?_28424867)_(33122854_?)del, NCBI36: NC_000001.9:g.(?_28623965)_(33361042_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135447.6, VCV000146124.2 | 1 |