A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992698



Internal ID18880010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47355549..47358749hg38UCSC Ensembl
Outerchr11:47377100..47380300hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg383201
hg193201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141192
Supporting Variants
SamplesKWS2
Known GenesSPI1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992698
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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