nsv3890174
- 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:4,165,074
- Description:GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)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: 11804 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 11804 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 3009 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3890174 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 18,347,821 | 22,512,894 |
| nsv3890174 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 18,674,315 | 22,839,387 |
| nsv3890174 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 18,546,902 | 22,711,974 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146488 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053789.5, VCV000059918.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146488 | Submitted genomic | NC_000001.11:g.(?_ 18347821)_(2251289 4_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 18,347,821 | 22,512,894 |
| nssv15146488 | Submitted genomic | NC_000001.10:g.(?_ 18674315)_(2283938 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 18,674,315 | 22,839,387 |
| nssv15146488 | Submitted genomic | NC_000001.9:g.(?_1 8546902)_(22711974 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 18,546,902 | 22,711,974 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146488 | GRCh37: NC_000001.10:g.(?_18674315)_(22839387_?)del, GRCh38: NC_000001.11:g.(?_18347821)_(22512894_?)del, NCBI36: NC_000001.9:g.(?_18546902)_(22711974_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053789.5, VCV000059918.1 | 1 |