A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964392



Internal ID18252944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:34401230..34402840hg38UCSC Ensembl
Innerchr20:32989036..32990646hg19UCSC Ensembl
Innerchr20:32452697..32454307hg18UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg381611
hg191611
hg181611
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2236430, nssv2236427, nssv2236429, nssv2236432, nssv2236428, nssv2236434, nssv2236433, nssv2236435, nssv2236431, nssv2236436
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesITCH
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964392
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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