A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962784



Internal ID18251340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25559909..25566659hg38UCSC Ensembl
Innerchr22:25955876..25962626hg19UCSC Ensembl
Innerchr22:24285876..24292626hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg386751
hg196751
hg186751
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2264046, nssv2264049, nssv2264044, nssv2264042, nssv2264047, nssv2264045, nssv2264050, nssv2264051, nssv2264048, nssv2264043
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesADRBK2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962784
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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