nsv3918992
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:20,524,481
- Description:NCBI36/hg18 15q24.3-26.2(chr15:75168372-95913943)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: 53075 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 53216 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 14193 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3918992 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 77,062,333 | 77,062,333 | 97,586,813 | 97,586,813 |
| nsv3918992 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 77,354,675 | 77,354,675 | 98,130,043 | 98,130,043 |
| nsv3918992 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 75,141,730 | 75,168,372 | 95,913,943 | 95,931,047 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15127211 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000450521.2, VCV000401078.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15127211 | Remapped | Good | NC_000015.10:g.(77 062333_77062333)_( 97586813_97586813) dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 77,062,333 | 77,062,333 | 97,586,813 | 97,586,813 |
| nssv15127211 | Remapped | Good | NC_000015.9:g.(773 54675_77354675)_(9 8130043_98130043)d up | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 77,354,675 | 77,354,675 | 98,130,043 | 98,130,043 |
| nssv15127211 | Submitted genomic | NC_000015.8:g.(751 41730_75168372)_(9 5913943_95931047)d up | NCBI36 (hg18) | NC_000015.8 | Chr15 | 75,141,730 | 75,168,372 | 95,913,943 | 95,931,047 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15127211 | NCBI36: NC_000015.8:g.(75141730_75168372)_(95913943_95931047)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000450521.2, VCV000401078.2 | 3 |