A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963702



Internal ID18598942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111802855..111806185hg38UCSC Ensembl
Innerchr2:112560432..112563762hg19UCSC Ensembl
Innerchr2:112276903..112280233hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg383331
hg193331
hg183331
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2668242, nssv2668245, nssv2668243, nssv2668246, nssv2668241, nssv2668237, nssv2668244, nssv2668238, nssv2668240, nssv2668239
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANAPC1
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963702
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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