A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565787



Internal ID16353196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100678729..100728224hg38UCSC Ensembl
Innerchr14:101145066..101194561hg19UCSC Ensembl
Innerchr14:100214819..100264314hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3849496
hg1949496
hg1849496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148979
SamplesNINDS_33
Known GenesDLK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565787
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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