nsv3890752
- 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:8,261,313
- Description:GRCh37/hg19 6q24.2-25.1(chr6:144075695-152337005)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: 19290 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 19290 SVs from 117 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3890752 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 143,754,558 | 152,015,870 |
nsv3890752 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 144,075,695 | 152,337,005 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15150486 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000448815.3, VCV000394905.3 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15150486 | Remapped | Perfect | NC_000006.12:g.(?_ 143754558)_(152015 870_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 143,754,558 | 152,015,870 |
nssv15150486 | Submitted genomic | NC_000006.11:g.(?_ 144075695)_(152337 005_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 144,075,695 | 152,337,005 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15150486 | GRCh37: NC_000006.11:g.(?_144075695)_(152337005_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000448815.3, VCV000394905.3 | 1 |