A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3764865



Internal ID19304798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111431601..111434702hg38UCSC Ensembl
chr5:110767299..110770400hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg383102
hg193102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1076589
Supporting Variants
SamplesKWP1
Known GenesCAMK4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3764865
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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