A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141440



Internal ID19285932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:119001853..119007053hg38UCSC Ensembl
Outerchr3:118720700..118725900hg19UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg385201
hg195201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3992946
SamplesKWS2
Known GenesIGSF11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141440
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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