A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146247



Internal ID19199622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:156279010..156284911hg38UCSC Ensembl
Outerchr3:155996799..156002700hg19UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg385902
hg195902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999446
SamplesKWB1
Known GenesKCNAB1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146247
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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