A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142352



Internal ID19274647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:3175041..3175124hg38UCSC Ensembl
Outerchr3:3216725..3216808hg19UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993856
SamplesKWS2
Known GenesCRBN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142352
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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