A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058784



Internal ID18801315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:13310103..13403542hg38UCSC Ensembl
Innerchr19:13420917..13514356hg19UCSC Ensembl
Innerchr19:13281917..13375356hg18UCSC Ensembl
Cytoband19p13.13
Allele length
AssemblyAllele length
hg3893440
hg1993440
hg1893440
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3438n100
Supporting Variantsnssv3564776
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)nsv1058784
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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