A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022258



Internal ID19111476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:51340..185383hg38UCSC Ensembl
Innerchr5:51455..185498hg19UCSC Ensembl
Innerchr5:104455..238498hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38134044
hg19134044
hg18134044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5515n100
Supporting Variantsnssv3633205
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)nsv1022258
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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