nsv7148135
- 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:2,131,572
- Description:GRCh37/hg19 14q22.3-23.1(chr14:57675327-59806898)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: 5042 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 5042 SVs from 95 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 |
---|---|---|---|---|---|---|---|---|---|
nsv7148135 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 57,208,609 | 59,340,180 |
nsv7148135 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 57,675,327 | 59,806,898 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv18841890 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003326901.1, VCV002578725.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18841890 | Remapped | Perfect | NC_000014.9:g.(?_5 7208609)_(59340180 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 57,208,609 | 59,340,180 |
nssv18841890 | Submitted genomic | NC_000014.8:g.(?_5 7675327)_(59806898 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 57,675,327 | 59,806,898 |
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 |
---|---|---|---|---|---|---|---|---|
nssv18841890 | GRCh37: NC_000014.8:g.(?_57675327)_(59806898_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV003326901.1, VCV002578725.1 | 1 |