nsv3897811
- 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:5,202,874
- Description:GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)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: 16599 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 16933 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 4624 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3897811 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 11,121,625 | 16,324,498 |
| nsv3897811 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 11,181,682 | 16,650,993 |
| nsv3897811 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 11,104,269 | 16,523,580 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146554 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053766.6, VCV000059895.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146554 | Submitted genomic | NC_000001.11:g.(?_ 11121625)_(1632449 8_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 11,121,625 | 16,324,498 |
| nssv15146554 | Submitted genomic | NC_000001.10:g.(?_ 11181682)_(1665099 3_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 11,181,682 | 16,650,993 |
| nssv15146554 | Submitted genomic | NC_000001.9:g.(?_1 1104269)_(16523580 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 11,104,269 | 16,523,580 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146554 | GRCh37: NC_000001.10:g.(?_11181682)_(16650993_?)del, GRCh38: NC_000001.11:g.(?_11121625)_(16324498_?)del, NCBI36: NC_000001.9:g.(?_11104269)_(16523580_?)del | copy number loss | maternal | See cases | Pathogenic | ClinVar | RCV000053766.6, VCV000059895.1 | 1 |