A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063127



Internal ID18805658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53926876..54068977hg38UCSC Ensembl
Innerchr19:54430130..54572231hg19UCSC Ensembl
Innerchr19:59121942..59264043hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38142102
hg19142102
hg18142102
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3573305
Samples
Known GenesCACNG6, CACNG7, CACNG8, MIR935, VSTM1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063127
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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