nsv6309988
- 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:808,238
- Description:NC_000016.9:g.(?_13915808)_(14724045_?)dup AND multiple conditions
- Publication(s):Alter et al. 2002, Kraemer et al. 2003, Laugel et al. 2000, Scott et al. 2009
- ClinVar: RCV001997616.3
- ClinVar: VCV001449573.3
- GeneReviews: NBK1342
- GeneReviews: NBK1397
- GeneReviews: NBK1401
- MONDO: 0010215
- MONDO: 0014108
- MONDO: 0016006
- MedGen: C0009207
- MedGen: C0268140
- MedGen: C3808988
- OMIM: 133520.0001
- OMIM: 133520.0002
- OMIM: 278760
- OMIM: 615272
- Orphanet: 84
- PubMed: 20301516
- PubMed: 20301571
- PubMed: 20301575
- PubMed: 20301753
- 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: 2003 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 2003 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6309988 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 13,821,951 | 14,630,188 |
| nsv6309988 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 13,915,808 | 14,724,045 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17973066 | duplication | Multiple | Multiple | Cockayne Syndrome; Cockayne syndrome; FANCONI ANEMIA, COMPLEMENTATION GROUP Q; FANCQ; Fanconi Anemia; Fanconi anemia; Fanconi anemia, complementation group Q; See individual phenotypes in OMIM allelic variants; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF; Xeroderma Pigmentosum; Xeroderma pigmentosum, group F | Uncertain significance | ClinVar | RCV001997616.3, VCV001449573.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17973066 | Remapped | Perfect | NC_000016.10:g.(?_ 13821951)_(1463018 8_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 13,821,951 | 14,630,188 |
| nssv17973066 | Submitted genomic | NC_000016.9:g.(?_1 3915808)_(14724045 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 13,915,808 | 14,724,045 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17973066 | GRCh37: NC_000016.9:g.(?_13915808)_(14724045_?)dup | duplication | germline | Cockayne Syndrome; Cockayne syndrome; FANCONI ANEMIA, COMPLEMENTATION GROUP Q; FANCQ; Fanconi Anemia; Fanconi anemia; Fanconi anemia, complementation group Q; See individual phenotypes in OMIM allelic variants; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF; Xeroderma Pigmentosum; Xeroderma pigmentosum, group F | Uncertain significance | ClinVar | RCV001997616.3, VCV001449573.3 |