A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519808



Internal ID15100415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:139396890..139805924hg38UCSC Ensembl
Innerchr5:138732579..139185509hg19UCSC Ensembl
Innerchr5:138760478..139165693hg18UCSC Ensembl
Innerchr5:138760478..139165693hg17UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38409035
hg19452931
hg18405216
hg17405216
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697062
Samples
Known GenesCXXC5, DNAJC18, ECSCR, LOC101929696, PSD2, SPATA24, TMEM173, UBE2D2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519808
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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