A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960598



Internal ID18595846
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2760110, nssv2759604, nssv2765394
SamplesHGDP01284, HGDP00521, HGDP00778
Known GenesTBC1D3, TBC1D3C, TBC1D3F, TBC1D3H
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960598
Frequency
Sample Size10
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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