nsv6291250
- 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:504,362
- Description:GRCh37/hg19 5q31.2(chr5:138386858-138935115)x3 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: 1376 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 1368 SVs from 75 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291250 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 139,051,169 | 139,555,530 |
| nsv6291250 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 138,386,858 | 138,935,115 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957522 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001827923.1, VCV001340692.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957522 | Remapped | Pass | NC_000005.10:g.(?_ 139051169)_(139555 530_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 139,051,169 | 139,555,530 |
| nssv17957522 | Submitted genomic | NC_000005.9:g.(?_1 38386858)_(1389351 15_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 138,386,858 | 138,935,115 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17957522 | GRCh37: NC_000005.9:g.(?_138386858)_(138935115_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001827923.1, VCV001340692.1 | 3 |