A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962581



Internal ID18251138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47156932..47162911hg38UCSC Ensembl
Innerchr20:45785571..45791551hg19UCSC Ensembl
Innerchr20:45218978..45224958hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg385980
hg195981
hg185981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2237754, nssv2237751, nssv2237749, nssv2237753, nssv2237750, nssv2237752, nssv2237747, nssv2237748, nssv2237756, nssv2237755
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesEYA2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962581
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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