A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564130



Internal ID16351539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:27554600..27617524hg38UCSC Ensembl
Innerchr14:28023806..28086730hg19UCSC Ensembl
Innerchr14:27093646..27156570hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3862925
hg1962925
hg1862925
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3593n54
Supporting Variantsnssv1149481
Samples1787431198_A
Known GenesLINC00645
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564130
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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