A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033701



Internal ID18776234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:127882004..128173863hg38UCSC Ensembl
Innerchr4:128803159..129095018hg19UCSC Ensembl
Innerchr4:129022609..129314468hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38291860
hg19291860
hg18291860
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5385n100
Supporting Variantsnssv3639430
Samples
Known GenesC4orf29, LARP1B, MFSD8, PLK4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033701
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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