A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6111479



Internal ID22020713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:77957530..77957621hg38UCSC Ensembl
chrX:77213027..77213118hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17643929
Samples
Known GenesATP7A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6111479
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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