A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045558



Internal ID19134777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:79841838..79878249hg38UCSC Ensembl
Innerchr14:80308181..80344592hg19UCSC Ensembl
Innerchr14:79377934..79414345hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3836412
hg1936412
hg1836412
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531221
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)nsv1045558
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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