nsv3909388
- 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:13,975,351
- Description:GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)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: 31577 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 31578 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 8409 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3909388 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 57,350,574 | 71,325,924 |
| nsv3909388 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 57,816,246 | 71,791,607 |
| nsv3909388 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 57,588,834 | 71,564,195 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146568 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053841.4, VCV000059970.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146568 | Submitted genomic | NC_000001.11:g.(?_ 57350574)_(7132592 4_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 57,350,574 | 71,325,924 |
| nssv15146568 | Submitted genomic | NC_000001.10:g.(?_ 57816246)_(7179160 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 57,816,246 | 71,791,607 |
| nssv15146568 | Submitted genomic | NC_000001.9:g.(?_5 7588834)_(71564195 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 57,588,834 | 71,564,195 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146568 | GRCh37: NC_000001.10:g.(?_57816246)_(71791607_?)del, GRCh38: NC_000001.11:g.(?_57350574)_(71325924_?)del, NCBI36: NC_000001.9:g.(?_57588834)_(71564195_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000053841.4, VCV000059970.1 | 1 |