A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3763477



Internal ID19306404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:72684175..72687676hg38UCSC Ensembl
chr6:73393899..73397400hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg383502
hg193502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1077476
Supporting Variants
SamplesKWP1
Known GenesKCNQ5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3763477
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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