A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050407



Internal ID19139626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20881449..20941810hg38UCSC Ensembl
Innerchr14:21349608..21409969hg19UCSC Ensembl
Innerchr14:20419448..20479809hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3860362
hg1960362
hg1860362
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1798n100
Supporting Variantsnssv3530761, nssv3712139, nssv3712142, nssv3530756, nssv3530758, nssv3530754, nssv3530763, nssv3530757, nssv3712140, nssv3530764, nssv3530762, nssv3530760, nssv3712141, nssv3530755, nssv3530759
Samples
Known GenesECRP, RNASE3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050407
Frequency
Sample Size11257
Observed Gain7
Observed Loss8
Observed Complex0
Frequencyn/a


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