A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17516681



Internal ID22574644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71212497..71220188hg38UCSC Ensembl
chrX:70432347..70440038hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg387692
hg197692
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5973279
Supporting Variants
Samples
Known GenesBCYRN1, GJB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17516681
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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