A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2764134



Internal ID17512146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46348078..46489869hg38UCSC Ensembl
Innerchr17:44425444..44567235hg19UCSC Ensembl
Innerchr17:41781200..41922551hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38141792
hg19141792
hg18141352
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960604
Supporting Variants
SamplesHGDP01029
Known GenesARL17A, ARL17B, NSFP1
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2764134
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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