A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979433



Internal ID18267950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:38976243..38979946hg38UCSC Ensembl
Innerchr20:37604886..37608589hg19UCSC Ensembl
Innerchr20:37038300..37042003hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg383704
hg193704
hg183704
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2236063, nssv2236065, nssv2236061, nssv2236062, nssv2236059, nssv2236067, nssv2236058, nssv2236060, nssv2236066, nssv2236064
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDHX35
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979433
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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