A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019193



Internal ID18761727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:127889372..128028165hg38UCSC Ensembl
Innerchr4:128810527..128949320hg19UCSC Ensembl
Innerchr4:129029977..129168770hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38138794
hg19138794
hg18138794
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3639431
Samples
Known GenesC4orf29, 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)nsv1019193
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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