A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578648



Internal ID16019371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14088146..14093323hg38UCSC Ensembl
Innerchr19:14198958..14204135hg19UCSC Ensembl
Innerchr19:14059958..14065135hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg385178
hg195178
hg185178
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6274n54
Supporting Variantsnssv894819
Samples
Known GenesPRKACA, SAMD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578648
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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