A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020140



Internal ID18762676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:49433..164078hg38UCSC Ensembl
Innerchr5:49548..164193hg19UCSC Ensembl
Innerchr5:102548..217193hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38114646
hg19114646
hg18114646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5517n100
Supporting Variantsnssv3633203
Samples
Known GenesPLEKHG4B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020140
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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