A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032888



Internal ID18775422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:131458353..131816882hg38UCSC Ensembl
Innerchr5:130794046..131152575hg19UCSC Ensembl
Innerchr5:130821945..131180474hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38358530
hg19358530
hg18358530
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3746639
Samples
Known GenesFNIP1, LOC728637, RAPGEF6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032888
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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