nsv5380993
- 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:30,295
- Description:NC_000016.9:g.(?_14693751)_(14724045_?)dup AND multiple conditions
- Publication(s):Savage et al. 2009, Talbert et al. 2005
- ClinVar: RCV001308558.4
- ClinVar: VCV001010851.7
- 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 32 studies. See in: genome view
Overlapping variant regions from other studies: 60 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 129 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5380993 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 14,599,894 | 14,630,188 |
| nsv5380993 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 172,751 | 203,044 |
| nsv5380993 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 14,693,751 | 14,724,045 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16866396 | 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 | RCV001308558.4, VCV001010851.7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16866396 | Remapped | Good | NT_187607.1:g.(?_1 72751)_(203044_?)d up | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 172,751 | 203,044 |
| nssv16866396 | Remapped | Perfect | NC_000016.10:g.(?_ 14599894)_(1463018 8_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 14,599,894 | 14,630,188 |
| nssv16866396 | Submitted genomic | NC_000016.9:g.(?_1 4693751)_(14724045 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 14,693,751 | 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 |
|---|---|---|---|---|---|---|---|
| nssv16866396 | GRCh37: NC_000016.9:g.(?_14693751)_(14724045_?)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 | RCV001308558.4, VCV001010851.7 |