A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148179



Internal ID19197761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:111807622..111812223hg38UCSC Ensembl
Outerchr2:112565199..112569800hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg384602
hg194602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001688
SamplesKWB1
Known GenesANAPC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148179
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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