A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979443



Internal ID18614646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:55074288..55075703hg38UCSC Ensembl
Innerchr20:53690827..53692242hg19UCSC Ensembl
Innerchr20:53124234..53125649hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381416
hg191416
hg181416
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2240300, nssv2240294, nssv2240301, nssv2240302, nssv2240295, nssv2240299, nssv2240303, nssv2240297, nssv2240296, nssv2240298
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979443
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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