A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3573306



Internal ID18524901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:53986233..54046901hg38UCSC Ensembl
Innerchr19:54489487..54550155hg19UCSC Ensembl
Innerchr19:59181299..59241967hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3860669
hg1960669
hg1860669
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1057516
Supporting Variants
Samples
Known GenesCACNG6, CACNG8, VSTM1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3573306
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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