A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724760



Internal ID148426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55270841..55271774hg38UCSC Ensembl
chr17:53348202..53349135hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38934
hg19934
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5530909
Supporting Variants
Samples
Known GenesHLF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724760
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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