A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599285



Internal ID16386694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:106020189..106935522hg38UCSC Ensembl
Innerchr5:105355890..106271223hg19UCSC Ensembl
Innerchr5:105383789..106299122hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38915334
hg19915334
hg18915334
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1039769
Samples
Known GenesLOC102467213
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599285
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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