A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976917



Internal ID19239338
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 StatusS
Merged Variantsnsv1124863
Supporting Variants
SamplesKWS2
Known GenesDNAJB7, XPNPEP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976917
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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