A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061379



Internal ID18803910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48224334..48278617hg38UCSC Ensembl
Innerchr19:48727591..48781874hg19UCSC Ensembl
Innerchr19:53419403..53473686hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3854284
hg1954284
hg1854284
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3614n100
Supporting Variantsnssv3574946
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)nsv1061379
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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