A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962340



Internal ID18597584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:49827588..49828788hg38UCSC Ensembl
Innerchr17:47904950..47906150hg19UCSC Ensembl
Innerchr17:45259949..45261149hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg381201
hg191201
hg181201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2102485, nssv2102486, nssv2102491, nssv2100656, nssv2102488, nssv2102487, nssv2102493, nssv2102492, nssv2102490, nssv2102489
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKAT7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962340
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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