A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003147



Internal ID19092364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:65726020..65767127hg38UCSC Ensembl
Innerchr4:66591738..66632845hg19UCSC Ensembl
Innerchr4:66274333..66315440hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3841108
hg1941108
hg1841108
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5238n100
Supporting Variantsnssv3626031, nssv3626033, nssv3626027, nssv3626030, nssv3626029, nssv3740188, nssv3626032, nssv3626028
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003147
Frequency
Sample Size11257
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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