nsv6315398
- 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:27,304,418
- Description:GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) AND Chromosome 2q32-q33 deletion syndrome
- Publication(s):Zarate et al. 2017
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 65082 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 65086 SVs from 135 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315398 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 184,832,932 | 212,137,349 |
| nsv6315398 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 185,697,659 | 213,002,074 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976941 | copy number loss | Multiple | Multiple | 2q32q33 microdeletion syndrome; Chromosome 2q32-q33 deletion syndrome; GLASS SYNDROME; GLASS; SATB2-Associated Syndrome; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV002280608.1, VCV001703524.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976941 | Remapped | Perfect | NC_000002.12:g.(?_ 184832932)_(212137 349_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,832,932 | 212,137,349 |
| nssv17976941 | Submitted genomic | NC_000002.11:g.(?_ 185697659)_(213002 074_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 185,697,659 | 213,002,074 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976941 | GRCh37: NC_000002.11:g.(?_185697659)_(213002074_?)del | copy number loss | unknown | 2q32q33 microdeletion syndrome; Chromosome 2q32-q33 deletion syndrome; GLASS SYNDROME; GLASS; SATB2-Associated Syndrome; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV002280608.1, VCV001703524.1 |