A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578341



Internal ID16019064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1862991..1864258hg38UCSC Ensembl
Innerchr19:1862990..1864257hg19UCSC Ensembl
Innerchr19:1813990..1815257hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381268
hg191268
hg181268
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv891952, nssv891948, nssv891950, nssv891953, nssv891947, nssv891949, nssv891951
Samples
Known GenesKLF16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578341
Frequency
Sample Size17421
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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