A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421679



Internal ID200743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:77983814..77983964hg38UCSC Ensembl
chrX:77239310..77239460hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17740893
Samples
Known GenesATP7A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421679
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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