nsv4729270
- 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:7,052,443
- Description:GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)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: 17571 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 17438 SVs from 121 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729270 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 48,658,305 | 55,710,747 |
| nsv4729270 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 48,626,041 | 55,575,545 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255830 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV001263045.1, VCV000983177.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255830 | Remapped | Good | NC_000006.12:g.(48 658305_?)_(?_55710 747)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 48,658,305 | 55,710,747 |
| nssv16255830 | Submitted genomic | NC_000006.11:g.(48 626041_?)_(?_55575 545)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 48,626,041 | 55,575,545 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255830 | GRCh37: NC_000006.11:g.(48626041_?)_(?_55575545)del | copy number loss | unknown | See cases | Likely pathogenic | ClinVar | RCV001263045.1, VCV000983177.1 | 1 |