A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018952



Internal ID18761485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:127929635..128161666hg38UCSC Ensembl
Innerchr4:128850790..129082821hg19UCSC Ensembl
Innerchr4:129070240..129302271hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38232032
hg19232032
hg18232032
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5385n100
Supporting Variantsnssv3743095
Samples
Known GenesC4orf29, LARP1B, MFSD8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018952
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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