nsv4453555
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:481,125
- Description:NC_000011.9:g.(?_65633902)_(66115026_?)dup AND Cutis laxa, autosomal recessive, type 1B
- Publication(s):Loeys et al. 2011
- ClinVar: RCV000798155.2
- ClinVar: VCV000644273.2
- GeneReviews: NBK54467
- MONDO: 0013754
- MedGen: C3280798
- OMIM: 604633.0001
- OMIM: 604633.0002
- OMIM: 604633.0003
- OMIM: 604633.0004
- OMIM: 604633.0005
- OMIM: 604633.0006
- OMIM: 604633.0007
- OMIM: 604633.0008
- OMIM: 614437
- Orphanet: 90349
- PubMed: 21563328
- 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: 1505 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1505 SVs from 90 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4453555 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 65,866,431 | 66,347,555 |
| nsv4453555 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 65,633,902 | 66,115,026 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15771583 | duplication | Multiple | Multiple | Autosomal recessive cutis laxa type 1; Autosomal recessive cutis laxa type 1B; CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B; EFEMP2-Related Cutis Laxa; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV000798155.2, VCV000644273.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15771583 | Submitted genomic | NC_000011.10:g.(?_ 65866431)_(6634755 5_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 65,866,431 | 66,347,555 |
| nssv15771583 | Submitted genomic | NC_000011.9:g.(?_6 5633902)_(66115026 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 65,633,902 | 66,115,026 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15771583 | GRCh37: NC_000011.9:g.(?_65633902)_(66115026_?)dup, GRCh38: NC_000011.10:g.(?_65866431)_(66347555_?)dup | duplication | germline | Autosomal recessive cutis laxa type 1; Autosomal recessive cutis laxa type 1B; CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B; EFEMP2-Related Cutis Laxa; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV000798155.2, VCV000644273.2 |