nsv7098946
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:263,864
- Description:GRCh38/hg38 15q11.2(chr15:22787668-23051531) AND Chromosome 15q11.2 deletion syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1971 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 2116 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098946 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 22,787,668 | 23,051,531 | ||
| nsv7098946 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 22,821,537 | 23,085,400 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792709 | copy number loss | Multiple | Multiple | 15q11.2 microdeletion syndrome; CHROMOSOME 15q11.2 DELETION SYNDROME; Chromosome 15q11.2 deletion syndrome | Uncertain significance | ClinVar | RCV003223558.2, VCV002499631.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18792709 | Submitted genomic | NC_000015.10:g.(?_ 22787668)_(2305153 1_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 22,787,668 | 23,051,531 | ||
| nssv18792709 | Remapped | Perfect | NC_000015.9:g.(?_2 2821537)_(23085400 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 22,821,537 | 23,085,400 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792709 | GRCh38: NC_000015.10:g.(?_22787668)_(23051531_?)del | copy number loss | unknown | 15q11.2 microdeletion syndrome; CHROMOSOME 15q11.2 DELETION SYNDROME; Chromosome 15q11.2 deletion syndrome | Uncertain significance | ClinVar | RCV003223558.2, VCV002499631.2 |