A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1151596



Internal ID19202719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:66139367..66144768hg38UCSC Ensembl
Outerchr2:66366499..66371900hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg385402
hg195402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4003021
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1151596
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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