nsv5381296
- 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:6,787,637
- Description:GRCh37/hg19 1q43-44(chr1:240554955-247342593) AND multiple conditions
- Publication(s):Manickam et al. 2021, Michelson et al. 2011
- ClinVar: RCV001352645.1
- ClinVar: VCV001047876.1
- HP: 0000252
- HP: 0001250
- HP: 0001263
- HP: 0001274
- HP: 0001320
- HP: 0002376
- MONDO: 0001149
- MONDO: 0009022
- MedGen: C0036572
- MedGen: C0175754
- MedGen: C0557874
- MedGen: C1836830
- MedGen: C1840379
- MedGen: C4551563
- OMIM: 217990
- Orphanet: 200
- PubMed: 21956720
- PubMed: 34211152
- 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: 22723 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 22724 SVs from 122 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381296 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 240,391,655 | 247,179,291 |
| nsv5381296 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 240,554,955 | 247,342,593 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16867377 | copy number loss | Multiple | Multiple | Agenesis of corpus callosum; CORPUS CALLOSUM, AGENESIS OF; Cerebellar vermis hypoplasia; Cerebellar vermis hypoplasia; Corpus callosum, agenesis of; Developmental regression; Developmental regression; Global developmental delay; Global developmental delay; Isolated corpus callosum agenesis; Microcephaly; Microcephaly; Seizure; Seizures | Pathogenic | ClinVar | RCV001352645.1, VCV001047876.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867377 | Remapped | Perfect | NC_000001.11:g.(?_ 240391655)_(247179 291_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 240,391,655 | 247,179,291 |
| nssv16867377 | Submitted genomic | NC_000001.10:g.(?_ 240554955)_(247342 593_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 240,554,955 | 247,342,593 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16867377 | GRCh37: NC_000001.10:g.(?_240554955)_(247342593_?)del | copy number loss | de novo | Agenesis of corpus callosum; CORPUS CALLOSUM, AGENESIS OF; Cerebellar vermis hypoplasia; Cerebellar vermis hypoplasia; Corpus callosum, agenesis of; Developmental regression; Developmental regression; Global developmental delay; Global developmental delay; Isolated corpus callosum agenesis; Microcephaly; Microcephaly; Seizure; Seizures | Pathogenic | ClinVar | RCV001352645.1, VCV001047876.1 |