A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141432



Internal ID18922529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:62847625..62852425hg38UCSC Ensembl
Outerchr3:62833300..62838100hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg384801
hg194801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3992937
SamplesKWS2
Known GenesCADPS
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141432
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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