A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993114



Internal ID19247520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:40463482..40467282hg38UCSC Ensembl
Outerchr9:42608500..42612300hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg383801
hg193801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141609
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993114
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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