A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992697



Internal ID19239171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:33625354..33628354hg38UCSC Ensembl
Outerchr11:33646900..33649900hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg383001
hg193001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141191
Supporting Variants
SamplesKWS2
Known GenesKIAA1549L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992697
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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