A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3766267



Internal ID19309647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53947139..53949140hg38UCSC Ensembl
chr8:54859699..54861700hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg382002
hg192002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1078614
Supporting Variants
SamplesKWP1
Known GenesRGS20
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3766267
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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