A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712944



Internal ID136610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37889980..37932735hg38UCSC Ensembl
chr17:36249602..36292279hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3842756
hg1942678
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144822
Supporting Variants
Samples
Known GenesTBC1D3, TBC1D3C, TBC1D3F, TBC1D3H
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712944
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.178536


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