A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960604



Internal ID18249166
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2764134, nssv2764276, nssv2763926, nssv2761865, nssv2757686, nssv2766606
SamplesHGDP00927, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456
Known GenesARL17A, ARL17B, NSFP1
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960604
Frequency
Sample Size10
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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