nsv4729564
- 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:498,046
- Description:GRCh37/hg19 5q31.2(chr5:138351402-138893343)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: 1303 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1295 SVs from 73 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729564 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 139,015,713 | 139,513,758 |
| nsv4729564 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 138,351,402 | 138,893,343 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255638 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259916.1, VCV000980740.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255638 | Remapped | Pass | NC_000005.10:g.(?_ 139015713)_(139513 758_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 139,015,713 | 139,513,758 |
| nssv16255638 | Submitted genomic | NC_000005.9:g.(?_1 38351402)_(1388933 43_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 138,351,402 | 138,893,343 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255638 | GRCh37: NC_000005.9:g.(?_138351402)_(138893343_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001259916.1, VCV000980740.1 | 3 |