A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599328



Internal ID16386737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:106989206..106990544hg38UCSC Ensembl
Innerchr5:106324907..106326245hg19UCSC Ensembl
Innerchr5:106352806..106354144hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg381339
hg191339
hg181339
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10001n54
Supporting Variantsnssv1039836, nssv1039835
Samples
Known GenesLOC102467213
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599328
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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