A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078564



Internal ID19316003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176798498..176801899hg38UCSC Ensembl
chr5:176225499..176228900hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg383402
hg193402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764650
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078564
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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