A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061986



Internal ID18804517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48238370..48283199hg38UCSC Ensembl
Innerchr19:48741627..48786456hg19UCSC Ensembl
Innerchr19:53433439..53478268hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3844830
hg1944830
hg1844830
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3614n100
Supporting Variantsnssv3574953
Samples
Known GenesCARD8, LOC100505812, ZNF114
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061986
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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