A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034190



Internal ID19123412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176043309..176241562hg38UCSC Ensembl
Innerchr5:175470312..175668565hg19UCSC Ensembl
Innerchr5:175402918..175601171hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38198254
hg19198254
hg18198254
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5838n100
Supporting Variantsnssv3649206, nssv3649207
Samples
Known GenesFAM153B, LOC100507387, LOC100996385, LOC643201, SIMC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034190
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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