A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051920



Internal ID18794451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20893865..20964296hg38UCSC Ensembl
Innerchr14:21362024..21432455hg19UCSC Ensembl
Innerchr14:20431864..20502295hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3870432
hg1970432
hg1870432
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1802n100
Supporting Variantsnssv3532119, nssv3532120
Samples
Known GenesECRP, RNASE2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051920
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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