A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3762003



Internal ID19313826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:3039385..3040786hg38UCSC Ensembl
chr5:3039499..3040900hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1078549
Supporting Variants
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3762003
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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