A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009099



Internal ID18751630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:74223516..74800996hg38UCSC Ensembl
Innerchr4:75089233..75726206hg19UCSC Ensembl
Innerchr4:75308097..75945230hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38577481
hg19636974
hg18637134
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3633826
Samples
Known GenesAREG, BTC, EPGN, EREG, MTHFD2L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009099
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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