A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3764256



Internal ID18964883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:87286782..87288183hg38UCSC Ensembl
chr5:86582599..86584000hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1078560
Supporting Variants
SamplesKWP1
Known GenesRASA1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3764256
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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