A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600367



Internal ID16041090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177398001..177406217hg38UCSC Ensembl
Innerchr5:176825002..176833218hg19UCSC Ensembl
Innerchr5:176757608..176765824hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg388217
hg198217
hg188217
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10185n54
Supporting Variantsnssv1045733
Samples
Known GenesF12, PFN3, SLC34A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600367
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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