A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053464



Internal ID18795995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20884940..20934425hg38UCSC Ensembl
Innerchr14:21353099..21402584hg19UCSC Ensembl
Innerchr14:20422939..20472424hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3849486
hg1949486
hg1849486
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1799n100
Supporting Variantsnssv3530770, nssv3530769, nssv3530768
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)nsv1053464
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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