A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077993



Internal ID19325245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109353098..109354699hg38UCSC Ensembl
chr5:108688799..108690400hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg381602
hg191602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769970
SamplesKWP1
Known GenesPJA2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077993
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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