nsv3899259
- 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:1,447,827
- Description:GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)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: 5317 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 5317 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 1376 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3899259 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 15,052,047 | 16,499,873 |
| nsv3899259 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 15,378,543 | 16,826,368 |
| nsv3899259 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 15,251,130 | 16,698,955 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133940 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000135597.4, VCV000146292.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133940 | Submitted genomic | NC_000001.11:g.(?_ 15052047)_(1649987 3_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 15,052,047 | 16,499,873 |
| nssv15133940 | Submitted genomic | NC_000001.10:g.(?_ 15378543)_(1682636 8_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 15,378,543 | 16,826,368 |
| nssv15133940 | Submitted genomic | NC_000001.9:g.(?_1 5251130)_(16698955 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 15,251,130 | 16,698,955 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133940 | GRCh37: NC_000001.10:g.(?_15378543)_(16826368_?)del, GRCh38: NC_000001.11:g.(?_15052047)_(16499873_?)del, NCBI36: NC_000001.9:g.(?_15251130)_(16698955_?)del | copy number loss | not provided | See cases | Likely pathogenic | ClinVar | RCV000135597.4, VCV000146292.2 | 1 |