A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144822



Internal ID344027
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 StatusM
Merged Variants
Supporting Variantsnssv17712944
Samples
Known GenesTBC1D3, TBC1D3C, TBC1D3F, TBC1D3H
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144822
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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