A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142351



Internal ID18920551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:2263846..2271090hg38UCSC Ensembl
Outerchr3:2305530..2312774hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg387245
hg197245
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993854
SamplesKWS2
Known GenesCNTN4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142351
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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