A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041991



Internal ID19131210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:78928065..79178543hg38UCSC Ensembl
Innerchr14:79394408..79644886hg19UCSC Ensembl
Innerchr14:78464161..78714639hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38250479
hg19250479
hg18250479
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531214
Samples
Known GenesNRXN3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041991
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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