A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600475



Internal ID16387884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178921604..178925001hg38UCSC Ensembl
Innerchr5:178348605..178352002hg19UCSC Ensembl
Innerchr5:178281211..178284608hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg383398
hg193398
hg183398
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10205n54
Supporting Variantsnssv1046262
Samples
Known GenesZFP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600475
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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