A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2262337



Internal ID17403266
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 StatusS
Merged Variantsnsv962779
Supporting Variants
SamplesHGDP00521
Known GenesCRYBB2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2262337
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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