A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993152



Internal ID19236080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:128130621..128138321hg38UCSC Ensembl
Outerchr9:130892900..130900600hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg387701
hg197701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141647
Supporting Variants
SamplesKWS2
Known GenesPTGES2-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993152
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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