nsv4676267
- 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:7,539,882
- Description:GRCh37/hg19 18q22.3-23(chr18:70383594-78014123)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: 30624 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 30504 SVs from 126 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4676267 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 72,716,359 | 80,256,240 |
nsv4676267 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 70,383,594 | 78,014,123 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16208546 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001007023.2, VCV000816057.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16208546 | Remapped | Good | NC_000018.10:g.(?_ 72716359)_(8025624 0_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 72,716,359 | 80,256,240 |
nssv16208546 | Submitted genomic | NC_000018.9:g.(?_7 0383594)_(78014123 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 70,383,594 | 78,014,123 |
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 |
---|---|---|---|---|---|---|---|---|
nssv16208546 | GRCh37: NC_000018.9:g.(?_70383594)_(78014123_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001007023.2, VCV000816057.2 | 1 |