A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000298



Internal ID16946564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:226064300..226073399hg38UCSC Ensembl
Outerchr1:226252001..226261100hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg389100
hg199100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952128
Supporting Variants
SamplesBILGI_BIOE
Known GenesH3F3A, H3F3AP4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000298
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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