A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062073



Internal ID18804604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:13460007..13679642hg38UCSC Ensembl
Innerchr19:13570821..13790456hg19UCSC Ensembl
Innerchr19:13431821..13651456hg18UCSC Ensembl
Cytoband19p13.13
Allele length
AssemblyAllele length
hg38219636
hg19219636
hg18219636
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3564777
Samples
Known GenesCACNA1A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062073
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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