A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146271



Internal ID19197287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:81616280..81621781hg38UCSC Ensembl
Outerchr5:80912099..80917600hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg385502
hg195502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999472
SamplesKWB1
Known GenesSSBP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146271
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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