A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517148



Internal ID15444441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102983745..102983948hg38UCSC Ensembl
Innerchr7:102624192..102624395hg19UCSC Ensembl
Innerchr7:102411428..102411631hg18UCSC Ensembl
Innerchr7:102218143..102218346hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38204
hg19204
hg18204
hg17204
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv666404, nssv677288, nssv653870, nssv682362, nssv661239, nssv678798
Samples
Known GenesFBXL13
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517148
Frequency
Sample Size2026
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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