A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6056209



Internal ID21965442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71220886..71220886hg38UCSC Ensembl
chrX:70440736..70440736hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17640559
Samples
Known GenesBCYRN1, GJB1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6056209
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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