A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2760110



Internal ID17800862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37891223..37929349hg38UCSC Ensembl
Innerchr17:36250843..36288894hg19UCSC Ensembl
Innerchr17:33324958..33363276hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3838127
hg1938052
hg1838319
Variant TypeCNV duplication
Copy Number9
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960598
Supporting Variants
SamplesHGDP00778
Known GenesTBC1D3, TBC1D3C, TBC1D3F, TBC1D3H
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2760110
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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