A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3766544



Internal ID19306613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:241614725..241614782hg38UCSC Ensembl
Outerchr1:241778027..241778084hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1078175
Supporting Variants
SamplesKWP1
Known GenesOPN3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3766544
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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