A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4739225



Internal ID20515198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71220897..71220897hg38UCSC Ensembl
chrX:70440747..70440747hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16263064
Samples
Known GenesBCYRN1, GJB1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4739225
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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