A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694449



Internal ID15084415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:11653506..11657243hg38UCSC Ensembl
Innerchr1:11713563..11717300hg19UCSC Ensembl
Innerchr1:11636150..11639887hg18UCSC Ensembl
Innerchr1:11647829..11651566hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg383738
hg193738
hg183738
hg173738
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521468
Supporting Variants
Samples
Known GenesFBXO2, FBXO44
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694449
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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