A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516797



Internal ID15444090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2721804..2834901hg38UCSC Ensembl
Innerchr4:2723531..2836628hg19UCSC Ensembl
Innerchr4:2693329..2806426hg18UCSC Ensembl
Innerchr4:2760737..2873634hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38113098
hg19113098
hg18113098
hg17112898
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv658459, nssv670969, nssv658389, nssv700352, nssv694520
Samples
Known GenesFAM193A, SH3BP2, TNIP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516797
Frequency
Sample Size2026
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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