nsv3170336
- Organism: Homo sapiens
- Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:114,008
- Description:NCKAP1
- Publication(s):Anazi et al. 2017, Basu et al. 2004, Chen et al. 2005, Eden et al. 2002, El-Assal et al. 2004, Ewing et al. 2007, Freed et al. 2016, Fujita et al. 2003, Gerhard et al. 2004, Ingham et al. 2005, Innocenti et al. 2004, Jin et al. 2004, Kitamura et al. 1996, Kitamura et al. 1997, Kobayashi et al. 1998, Matuoka et al. 1997, Mayne et al. 2004, Nagase et al. 1998, Ota et al. 2004, Riggs et al. 2011, Salazar et al. 2003, Strausberg et al. 2002, Suzuki et al. 2000, Wang et al. 2016, Witke et al. 1998, Yamamoto et al. 2001
- ClinGen: NCKAP1
- GENE: 10787
- MONDO: 0005503
- OMIM: 604891
- PubMed: 10673335
- PubMed: 11418237
- PubMed: 12181570
- PubMed: 12477932
- PubMed: 14506234
- PubMed: 14560022
- PubMed: 14702039
- PubMed: 15048123
- PubMed: 15048733
- PubMed: 15294869
- PubMed: 15296760
- PubMed: 15324660
- PubMed: 15489334
- PubMed: 15749123
- PubMed: 16055720
- PubMed: 17353931
- PubMed: 27632392
- PubMed: 27824329
- PubMed: 28940097
- PubMed: 8605018
- PubMed: 9148763
- PubMed: 9344857
- PubMed: 9417078
- PubMed: 9463375
- PubMed: 9628581
- 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: 310 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 310 SVs from 39 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3170336 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 182,924,851 | 183,038,858 |
| nsv3170336 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 183,789,579 | 183,903,586 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|
| nssv14252561 | copy number loss | Curated | Curated | developmental disorder of mental health | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14252561 | Remapped | Perfect | NC_000002.12:g.(?_ 182924851)_(183038 858_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 182,924,851 | 183,038,858 |
| nssv14252561 | Submitted genomic | NC_000002.11:g.(?_ 183789579)_(183903 586_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 183,789,579 | 183,903,586 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|
| nssv14252561 | GRCh37: NC_000002.11:g.(?_183789579)_(183903586_?)del | copy number loss | developmental disorder of mental health | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |