nsv3902865
- 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:9,042
- Description:GRCh37/hg19 18q23(chr18:74102947-74111988)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: 374 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 374 SVs from 54 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3902865 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 76,390,991 | 76,400,032 |
nsv3902865 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 74,102,947 | 74,111,988 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15174262 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000752414.2, VCV000615778.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15174262 | Remapped | Perfect | NC_000018.10:g.(?_ 76390991)_(7640003 2_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 76,390,991 | 76,400,032 |
nssv15174262 | Submitted genomic | NC_000018.9:g.(?_7 4102947)_(74111988 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 74,102,947 | 74,111,988 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15174262 | GRCh37: NC_000018.9:g.(?_74102947)_(74111988_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000752414.2, VCV000615778.2 | 1 |