nsv3908695
- 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:5,208,640
- Description:GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)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: 13678 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 13689 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 3505 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 |
|---|---|---|---|---|---|---|---|
| nsv3908695 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 223,347,693 | 228,556,332 |
| nsv3908695 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 223,521,035 | 228,744,033 |
| nsv3908695 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 221,587,658 | 226,810,656 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146702 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136636.4, VCV000147449.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146702 | Submitted genomic | NC_000001.11:g.(?_ 223347693)_(228556 332_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 223,347,693 | 228,556,332 |
| nssv15146702 | Submitted genomic | NC_000001.10:g.(?_ 223521035)_(228744 033_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 223,521,035 | 228,744,033 |
| nssv15146702 | Submitted genomic | NC_000001.9:g.(?_2 21587658)_(2268106 56_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 221,587,658 | 226,810,656 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146702 | GRCh37: NC_000001.10:g.(?_223521035)_(228744033_?)del, GRCh38: NC_000001.11:g.(?_223347693)_(228556332_?)del, NCBI36: NC_000001.9:g.(?_221587658)_(226810656_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000136636.4, VCV000147449.2 | 1 |