A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115641



Internal ID18905962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:89461150..89466750hg38UCSC Ensembl
Outerchr3:89510300..89515900hg19UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg385601
hg195601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977450
SamplesKWS2
Known GenesEPHA3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115641
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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