A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3767394



Internal ID19308194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135786310..135793811hg38UCSC Ensembl
chr5:135121999..135129500hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg387502
hg197502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1077463
Supporting Variants
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3767394
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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