A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052371



Internal ID18794902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20881449..20940785hg38UCSC Ensembl
Innerchr14:21349608..21408944hg19UCSC Ensembl
Innerchr14:20419448..20478784hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3859337
hg1959337
hg1859337
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1799n100
Supporting Variantsnssv3530753
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)nsv1052371
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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