A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962779



Internal ID18598021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25225785..25231645hg38UCSC Ensembl
Innerchr22:25621752..25627612hg19UCSC Ensembl
Innerchr22:23951752..23957612hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg385861
hg195861
hg185861
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2262336, nssv2262338, nssv2262339, nssv2262345, nssv2262340, nssv2262344, nssv2262342, nssv2262341, nssv2262337, nssv2262343
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCRYBB2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962779
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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