A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6112327



Internal ID22021560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71219623..71219772hg38UCSC Ensembl
chrX:70439473..70439622hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17641067
Samples
Known GenesBCYRN1, GJB1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6112327
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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