A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960494



Internal ID18595745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46244609..46348078hg38UCSC Ensembl
Innerchr17:44321975..44425444hg19UCSC Ensembl
Innerchr17:41677752..41781200hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38103470
hg19103470
hg18103449
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2099955, nssv2099956, nssv2099949, nssv2099957, nssv2099952, nssv2099948, nssv2099953, nssv2099954, nssv2099951, nssv2099950
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesARL17A, ARL17B, LOC644172, LRRC37A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960494
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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