A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16979720



Internal ID53858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177431000..177437324hg38UCSC Ensembl
chr5:176858001..176864325hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg386325
hg196325
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140914
Supporting Variants
Samples
Known GenesGRK6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16979720
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.221511


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