A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960524



Internal ID18595775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:66758220..66760876hg38UCSC Ensembl
Innerchr17:64754338..64756994hg19UCSC Ensembl
Innerchr17:62184800..62187456hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg382657
hg192657
hg182657
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2107120, nssv2107126, nssv2107124, nssv2107122, nssv2107117, nssv2107118, nssv2107125, nssv2107123, nssv2107119, nssv2107121
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPRKCA
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960524
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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