A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714590



Internal ID138256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75055650..75066984hg38UCSC Ensembl
chr17:73051745..73063079hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3811335
hg1911335
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528999
Supporting Variants
Samples
Known GenesKCTD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714590
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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