nsv4675395
- 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:1,053,080
- Description:GRCh37/hg19 10p12.1(chr10:27302866-28355945)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: 3543 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 3543 SVs from 95 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675395 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 27,013,937 | 28,067,016 |
| nsv4675395 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 27,302,866 | 28,355,945 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207043 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006302.1, VCV000815325.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207043 | Remapped | Perfect | NC_000010.11:g.(?_ 27013937)_(2806701 6_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 27,013,937 | 28,067,016 |
| nssv16207043 | Submitted genomic | NC_000010.10:g.(?_ 27302866)_(2835594 5_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 27,302,866 | 28,355,945 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207043 | GRCh37: NC_000010.10:g.(?_27302866)_(28355945_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001006302.1, VCV000815325.1 | 3 |