A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058936



Internal ID18801467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42578696..42724009hg38UCSC Ensembl
Innerchr19:43082848..43228161hg19UCSC Ensembl
Innerchr19:47774688..47920001hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38145314
hg19145314
hg18145314
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3568651
Samples
Known GenesCEACAM8, LIPE-AS1, PSG3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058936
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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