A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578658



Internal ID16019381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14090150..14091875hg38UCSC Ensembl
Innerchr19:14200962..14202687hg19UCSC Ensembl
Innerchr19:14061962..14063687hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381726
hg191726
hg181726
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv894837
Samples
Known GenesPRKACA, SAMD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578658
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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