nsv4729200
- 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:1,377,724
- Description:GRCh37/hg19 10p12.1(chr10:27265783-28643506)x1 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: 4278 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 4278 SVs from 103 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729200 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 26,976,854 | 28,354,577 |
| nsv4729200 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 27,265,783 | 28,643,506 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255407 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259541.1, VCV000980365.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255407 | Remapped | Perfect | NC_000010.11:g.(?_ 26976854)_(2835457 7_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 26,976,854 | 28,354,577 |
| nssv16255407 | Submitted genomic | NC_000010.10:g.(?_ 27265783)_(2864350 6_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 27,265,783 | 28,643,506 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255407 | GRCh37: NC_000010.10:g.(?_27265783)_(28643506_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001259541.1, VCV000980365.1 | 1 |