A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110405



Internal ID19262215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50793372..50804672hg38UCSC Ensembl
Outerchr22:51231800..51243100hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3811301
hg1911301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960056
SamplesKWS1
Known GenesRPL23AP82
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110405
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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