A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124863



Internal ID19287128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:40861696..40864596hg38UCSC Ensembl
Outerchr22:41257700..41260600hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg382901
hg192901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976917
SamplesKWS2
Known GenesDNAJB7, XPNPEP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124863
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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