A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048274



Internal ID19137493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:78857249..78951563hg38UCSC Ensembl
Innerchr14:79323592..79417906hg19UCSC Ensembl
Innerchr14:78393345..78487659hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3894315
hg1994315
hg1894315
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531213
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)nsv1048274
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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