A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580240



Internal ID18531835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113604426..113748753hg38UCSC Ensembl
Innerchr2:114362003..114506330hg19UCSC Ensembl
Innerchr2:114078473..114222800hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38144328
hg19144328
hg18144328
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1001195
Supporting Variants
Samples
Known GenesMIR4782, RABL2A, RPL23AP7, SLC35F5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3580240
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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