A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2764239



Internal ID17484488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46566187..46709215hg38UCSC Ensembl
Innerchr17:44643553..44786581hg19UCSC Ensembl
Innerchr17:41998869..42141764hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38143029
hg19143029
hg18142896
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978553
Supporting Variants
SamplesHGDP00998
Known GenesARL17A, ARL17B, NSF, NSFP1
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2764239
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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