nsv7094752
- 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:35,980
- Description:NC_000016.9:g.(?_14540725)_(14576704_?)dup AND multiple conditions
- Publication(s):Savage et al. 2009, Talbert et al. 2005
- ClinVar: RCV003122580.2
- ClinVar: VCV002424494.2
- GeneReviews: NBK22301
- MONDO: 0014600
- MONDO: 0014612
- MedGen: C4225347
- MedGen: C4225356
- OMIM: 604212.0005
- OMIM: 604212.0006
- OMIM: 604212.0007
- OMIM: 604212.0008
- OMIM: 616353
- OMIM: 616371
- Orphanet: 2032
- PubMed: 20301408
- PubMed: 20301779
- 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: 129 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 74 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 129 SVs from 34 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7094752 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 14,446,868 | 14,482,847 |
| nsv7094752 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 19,725 | 55,704 |
| nsv7094752 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 14,540,725 | 14,576,704 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787580 | duplication | Multiple | Multiple | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6; Dyskeratosis Congenita; Dyskeratosis congenita, autosomal recessive 6; Idiopathic pulmonary fibrosis; PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV003122580.2, VCV002424494.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787580 | Remapped | Perfect | NT_187607.1:g.(?_1 9725)_(55704_?)dup | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 19,725 | 55,704 |
| nssv18787580 | Remapped | Perfect | NC_000016.10:g.(?_ 14446868)_(1448284 7_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 14,446,868 | 14,482,847 |
| nssv18787580 | Submitted genomic | NC_000016.9:g.(?_1 4540725)_(14576704 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 14,540,725 | 14,576,704 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18787580 | GRCh37: NC_000016.9:g.(?_14540725)_(14576704_?)dup | duplication | germline | DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6; Dyskeratosis Congenita; Dyskeratosis congenita, autosomal recessive 6; Idiopathic pulmonary fibrosis; PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV003122580.2, VCV002424494.2 |