nsv7137205
- 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:1,373,098
- Description:GRCh37/hg19 15q13.2-13.3(chr15:31073735-32446830) AND Chromosome 15q13.3 microdeletion syndrome
- Publication(s):Lowther et al. 2014, van Bon et al. 2010
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 4579 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 2999 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 3043 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 4579 SVs from 118 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7137205 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 30,781,532 | 32,154,629 |
| nsv7137205 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 3,067,237 | 4,439,785 |
| nsv7137205 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 2,954,785 | 4,327,333 |
| nsv7137205 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 31,073,735 | 32,446,830 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18830990 | copy number loss | Multiple | Multiple | 15q13.3 Microdeletion; 15q13.3 microdeletion syndrome; CHROMOSOME 15q13.3 DELETION SYNDROME; Chromosome 15q13.3 microdeletion syndrome | Pathogenic | ClinVar | RCV003319584.1, VCV002574687.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18830990 | Remapped | Good | NT_187660.1:g.(306 7237_?)_(?_4439785 )del | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 3,067,237 | 4,439,785 |
| nssv18830990 | Remapped | Good | NW_011332701.1:g.( 2954785_?)_(?_4327 333)del | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 2,954,785 | 4,327,333 |
| nssv18830990 | Remapped | Perfect | NC_000015.10:g.(30 781532_?)_(?_32154 629)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 30,781,532 | 32,154,629 |
| nssv18830990 | Submitted genomic | NC_000015.9:g.(310 73735_?)_(?_324468 30)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 31,073,735 | 32,446,830 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18830990 | GRCh37: NC_000015.9:g.(31073735_?)_(?_32446830)del | copy number loss | unknown | 15q13.3 Microdeletion; 15q13.3 microdeletion syndrome; CHROMOSOME 15q13.3 DELETION SYNDROME; Chromosome 15q13.3 microdeletion syndrome | Pathogenic | ClinVar | RCV003319584.1, VCV002574687.1 |