A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054388



Internal ID18796919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:75813178..75895015hg38UCSC Ensembl
Innerchr14:76279521..76361358hg19UCSC Ensembl
Innerchr14:75349274..75431111hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3881838
hg1981838
hg1881838
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1941n100
Supporting Variantsnssv3531206
Samples
Known GenesBCYRN1, TTLL5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054388
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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