A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139796



Internal ID19250504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:88502550..88508750hg38UCSC Ensembl
Outerchr3:88551700..88557900hg19UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg386201
hg196201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978132
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139796
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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