nsv7098925
- 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:1,247,593
- Description:GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691) AND Chromosome 19p13.13 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: 5174 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 5175 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098925 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 15,014,099 | 16,261,691 | ||
| nsv7098925 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 15,124,911 | 16,372,502 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792701 | copy number loss | Multiple | Multiple | 19p13.13 microdeletion syndrome; 19p13.3 microduplication syndrome; CHROMOSOME 19p13.13 DELETION SYNDROME; Chromosome 19p13.13 deletion syndrome | Pathogenic | ClinVar | RCV003223562.2, VCV002499635.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18792701 | Submitted genomic | NC_000019.10:g.(?_ 15014099)_(1626169 1_?)del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 15,014,099 | 16,261,691 | ||
| nssv18792701 | Remapped | Perfect | NC_000019.9:g.(?_1 5124911)_(16372502 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 15,124,911 | 16,372,502 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792701 | GRCh38: NC_000019.10:g.(?_15014099)_(16261691_?)del | copy number loss | de novo | 19p13.13 microdeletion syndrome; 19p13.3 microduplication syndrome; CHROMOSOME 19p13.13 DELETION SYNDROME; Chromosome 19p13.13 deletion syndrome | Pathogenic | ClinVar | RCV003223562.2, VCV002499635.2 |