nsv3902711
- 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:15,772
- Description:GRCh37/hg19 10q11.22(chr10:49367155-49382926)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 158 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 137 SVs from 43 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3902711 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 48,159,112 | 48,174,883 |
| nsv3902711 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 49,367,155 | 49,382,926 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15142643 | copy number gain | Multiple | Multiple | See cases | Benign/Likely benign | ClinVar | RCV000447614.3, VCV000395331.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15142643 | Remapped | Perfect | NC_000010.11:g.(?_ 48159112)_(4817488 3_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 48,159,112 | 48,174,883 |
| nssv15142643 | Submitted genomic | NC_000010.10:g.(?_ 49367155)_(4938292 6_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 49,367,155 | 49,382,926 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15142643 | GRCh37: NC_000010.10:g.(?_49367155)_(49382926_?)dup | copy number gain | not provided | See cases | Benign/Likely benign | ClinVar | RCV000447614.3, VCV000395331.3 | 3 |