nsv3900473
- 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:3,820,816
- Description:GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)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: 8849 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 8849 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 2117 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 |
|---|---|---|---|---|---|---|---|
| nsv3900473 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 40,693,289 | 44,514,104 |
| nsv3900473 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 41,158,961 | 44,979,776 |
| nsv3900473 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 40,931,548 | 44,752,363 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145658 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050706.6, VCV000057093.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145658 | Submitted genomic | NC_000001.11:g.(?_ 40693289)_(4451410 4_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 40,693,289 | 44,514,104 |
| nssv15145658 | Submitted genomic | NC_000001.10:g.(?_ 41158961)_(4497977 6_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 41,158,961 | 44,979,776 |
| nssv15145658 | Submitted genomic | NC_000001.9:g.(?_4 0931548)_(44752363 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 40,931,548 | 44,752,363 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145658 | GRCh37: NC_000001.10:g.(?_41158961)_(44979776_?)del, GRCh38: NC_000001.11:g.(?_40693289)_(44514104_?)del, NCBI36: NC_000001.9:g.(?_40931548)_(44752363_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000050706.6, VCV000057093.1 | 1 |