A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712785



Internal ID136451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:34950658..34950712hg38UCSC Ensembl
chr17:33277677..33277731hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5526252
Supporting Variants
Samples
Known GenesCCT6B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712785
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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