nsv4729561
- 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:329,775
- Description:GRCh37/hg19 5q22.1(chr5:110338499-110668272)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: 846 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 848 SVs from 67 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729561 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 111,002,800 | 111,332,574 |
| nsv4729561 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 110,338,499 | 110,668,272 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254302 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259353.1, VCV000980177.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254302 | Remapped | Perfect | NC_000005.10:g.(?_ 111002800)_(111332 574_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 111,002,800 | 111,332,574 |
| nssv16254302 | Submitted genomic | NC_000005.9:g.(?_1 10338499)_(1106682 72_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 110,338,499 | 110,668,272 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254302 | GRCh37: NC_000005.9:g.(?_110338499)_(110668272_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001259353.1, VCV000980177.1 | 3 |