nsv3899287
- 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:5,595,083
- Description:GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)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: 18057 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 18064 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 5248 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3899287 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 15,385,267 | 20,980,349 |
| nsv3899287 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 15,711,763 | 21,306,842 |
| nsv3899287 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 15,584,350 | 21,179,429 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146223 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051146.4, VCV000057443.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146223 | Submitted genomic | NC_000001.11:g.(?_ 15385267)_(2098034 9_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 15,385,267 | 20,980,349 |
| nssv15146223 | Submitted genomic | NC_000001.10:g.(?_ 15711763)_(2130684 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 15,711,763 | 21,306,842 |
| nssv15146223 | Submitted genomic | NC_000001.9:g.(?_1 5584350)_(21179429 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 15,584,350 | 21,179,429 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146223 | GRCh37: NC_000001.10:g.(?_15711763)_(21306842_?)del, GRCh38: NC_000001.11:g.(?_15385267)_(20980349_?)del, NCBI36: NC_000001.9:g.(?_15584350)_(21179429_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051146.4, VCV000057443.1 | 1 |