A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3530730



Internal ID18482325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20870300..20941810hg38UCSC Ensembl
Innerchr14:21338459..21409969hg19UCSC Ensembl
Innerchr14:20408299..20479809hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3871511
hg1971511
hg1871511
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1036728
Supporting Variants
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)nssv3530730
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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