A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020299



Internal ID18762834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181100309..181159791hg38UCSC Ensembl
Innerchr5:180527309..180586791hg19UCSC Ensembl
Innerchr5:180459915..180519397hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3859483
hg1959483
hg1859483
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5861n100
Supporting Variantsnssv3650347
Samples
Known GenesOR2V1, OR2V2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020299
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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