nsv4729490
- 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:313,571
- Description:GRCh37/hg19 16p13.3(chr16:1505184-1818754)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: 1458 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1458 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729490 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 1,455,183 | 1,768,753 |
| nsv4729490 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 1,505,184 | 1,818,754 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255553 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259750.1, VCV000980574.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255553 | Remapped | Perfect | NC_000016.10:g.(?_ 1455183)_(1768753_ ?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 1,455,183 | 1,768,753 |
| nssv16255553 | Submitted genomic | NC_000016.9:g.(?_1 505184)_(1818754_? )dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 1,505,184 | 1,818,754 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255553 | GRCh37: NC_000016.9:g.(?_1505184)_(1818754_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001259750.1, VCV000980574.1 | 3 |