A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029230



Internal ID18771762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:185450051..185594299hg38UCSC Ensembl
Innerchr4:186371205..186515453hg19UCSC Ensembl
Innerchr4:186608199..186752447hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38144249
hg19144249
hg18144249
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5493n100
Supporting Variantsnssv3635620, nssv3635619
Samples
Known GenesCCDC110, PDLIM3, SORBS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029230
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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