A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600489



Internal ID16041212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178941095..179003374hg38UCSC Ensembl
Innerchr5:178368096..178430375hg19UCSC Ensembl
Innerchr5:178300702..178362981hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3862280
hg1962280
hg1862280
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1046303
Samples
Known GenesGRM6, ZNF454
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600489
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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