nsv4456267
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:46,596
- Description:GRCh37/hg19 15q26.1(chr15:89828317-89874912)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 330 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 330 SVs from 57 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4456267 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 89,285,086 | 89,331,681 |
nsv4456267 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 89,828,317 | 89,874,912 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15775451 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000847319.2, VCV000686611.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15775451 | Remapped | Perfect | NC_000015.10:g.(?_ 89285086)_(8933168 1_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 89,285,086 | 89,331,681 |
nssv15775451 | Submitted genomic | NC_000015.9:g.(?_8 9828317)_(89874912 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 89,828,317 | 89,874,912 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15775451 | GRCh37: NC_000015.9:g.(?_89828317)_(89874912_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000847319.2, VCV000686611.2 | 1 |