nsv4436225
- 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:10,885,952
- Description:NC_000001.10:g.172652343_183538289del10885947 AND 1q24q25 microdeletion syndrome
- Publication(s):Burkardt et al. 2011
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 23812 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 23817 SVs from 121 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4436225 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 172,683,203 | 183,569,154 |
| nsv4436225 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 172,652,343 | 183,538,289 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15754919 | deletion | Multiple | Multiple | 1q24q25 microdeletion syndrome | Pathogenic | ClinVar | RCV000785662.2, VCV000599187.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15754919 | Remapped | Perfect | NC_000001.11:g.172 683203_183569154de l | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 172,683,203 | 183,569,154 |
| nssv15754919 | Submitted genomic | NC_000001.10:g.172 652343_183538289de l | GRCh37 (hg19) | NC_000001.10 | Chr1 | 172,652,343 | 183,538,289 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15754919 | GRCh37: NC_000001.10:g.172652343_183538289del | deletion | de novo | 1q24q25 microdeletion syndrome | Pathogenic | ClinVar | RCV000785662.2, VCV000599187.2 |