A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564640



Internal ID16352049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:43358503..43778538hg38UCSC Ensembl
Innerchr14:43827706..44247741hg19UCSC Ensembl
Innerchr14:42897456..43317491hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38420036
hg19420036
hg18420036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3681n54
Supporting Variantsnssv1148575, nssv827525, nssv827524, nssv827526, nssv1148576
SamplesNINDS_9, 1780854533_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564640
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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