nsv3911951
- 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:1,641,245
- Description:NCBI36/hg18 15q24.1-24.2(chr15:72206704-73807023)x1 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: 4280 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 4281 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 891 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3911951 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 74,106,964 | 74,106,964 | 75,748,208 | 75,748,208 |
| nsv3911951 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 74,399,305 | 74,399,305 | 76,040,549 | 76,040,549 |
| nsv3911951 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 72,186,358 | 72,206,704 | 73,807,023 | 73,827,604 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15126059 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000451090.2, VCV000398359.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15126059 | Remapped | Perfect | NC_000015.10:g.(74 106964_74106964)_( 75748208_75748208) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 74,106,964 | 74,106,964 | 75,748,208 | 75,748,208 |
| nssv15126059 | Remapped | Perfect | NC_000015.9:g.(743 99305_74399305)_(7 6040549_76040549)d el | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 74,399,305 | 74,399,305 | 76,040,549 | 76,040,549 |
| nssv15126059 | Submitted genomic | NC_000015.8:g.(721 86358_72206704)_(7 3807023_73827604)d el | NCBI36 (hg18) | NC_000015.8 | Chr15 | 72,186,358 | 72,206,704 | 73,807,023 | 73,827,604 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15126059 | NCBI36: NC_000015.8:g.(72186358_72206704)_(73807023_73827604)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000451090.2, VCV000398359.2 | 1 |