A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564729



Internal ID16352138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:45555472..45989493hg38UCSC Ensembl
Innerchr14:46024675..46458696hg19UCSC Ensembl
Innerchr14:45094425..45528446hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38434022
hg19434022
hg18434022
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148600
SamplesNINDS_136
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564729
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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