A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059279



Internal ID19148498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:23438071..23888352hg38UCSC Ensembl
Innerchr19:23620873..24071154hg19UCSC Ensembl
Innerchr19:23412713..23862994hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38450282
hg19450282
hg18450282
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3479n100
Supporting Variantsnssv3570633, nssv3570635, nssv3570632, nssv3570634, nssv3570636
Samples
Known GenesRPSAP58, ZNF675, ZNF681
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059279
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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