A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3530749



Internal ID18482344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20880514..20957189hg38UCSC Ensembl
Innerchr14:21348673..21425348hg19UCSC Ensembl
Innerchr14:20418513..20495188hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3876676
hg1976676
hg1876676
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1047033
Supporting Variants
Samples
Known GenesECRP, RNASE2, RNASE3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3530749
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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