A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977145



Internal ID18893193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:117206484..117209284hg38UCSC Ensembl
Outerchr11:117077200..117080000hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg382801
hg192801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139559
Supporting Variants
SamplesKWS2
Known GenesPCSK7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977145
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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