A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564483



Internal ID16351892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:41137648..41200002hg38UCSC Ensembl
Innerchr14:41606851..41669205hg19UCSC Ensembl
Innerchr14:40676601..40738955hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3862355
hg1962355
hg1862355
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3659n54
Supporting Variantsnssv826697, nssv826696, nssv826698
Samples
Known GenesLOC644919
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564483
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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