nsv5381794
- 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:36,911
- Description:GRCh37/hg19 16p13.3(chr16:3784414-3821324) AND multiple conditions
- Publication(s):Miller et al. 2010
- ClinVar: RCV001352636.1
- ClinVar: VCV001047867.1
- HP: 0000717
- HP: 0000750
- HP: 0000998
- HP: 0001274
- HP: 0011304
- MONDO: 0005260
- MONDO: 0009022
- MONDO: 0019280
- MeSH: D001321
- MedGen: C0004352
- MedGen: C0020555
- MedGen: C0175754
- MedGen: C0426891
- MedGen: C0454644
- OMIM: 209850
- OMIM: 217990
- Orphanet: 200
- PubMed: 20466091
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 145 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 145 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381794 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 3,734,413 | 3,771,323 |
| nsv5381794 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 3,784,414 | 3,821,324 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16867368 | copy number loss | Multiple | Multiple | AUTISM; Agenesis of corpus callosum; Autism; Autistic Disorder; Autistic disorder of childhood onset; Broad thumb; Broad thumb; CORPUS CALLOSUM, AGENESIS OF; Corpus callosum, agenesis of; Delayed speech and language development; Delayed speech and language development; Hypertrichosis; Hypertrichosis; Isolated corpus callosum agenesis | Pathogenic | ClinVar | RCV001352636.1, VCV001047867.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867368 | Remapped | Perfect | NC_000016.10:g.(?_ 3734413)_(3771323_ ?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 3,734,413 | 3,771,323 |
| nssv16867368 | Submitted genomic | NC_000016.9:g.(?_3 784414)_(3821324_? )del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 3,784,414 | 3,821,324 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16867368 | GRCh37: NC_000016.9:g.(?_3784414)_(3821324_?)del | copy number loss | de novo | AUTISM; Agenesis of corpus callosum; Autism; Autistic Disorder; Autistic disorder of childhood onset; Broad thumb; Broad thumb; CORPUS CALLOSUM, AGENESIS OF; Corpus callosum, agenesis of; Delayed speech and language development; Delayed speech and language development; Hypertrichosis; Hypertrichosis; Isolated corpus callosum agenesis | Pathogenic | ClinVar | RCV001352636.1, VCV001047867.1 |