A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018994



Internal ID18761527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:128854457..129012813hg38UCSC Ensembl
Innerchr4:129775612..129933968hg19UCSC Ensembl
Innerchr4:129995062..130153418hg18UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38158357
hg19158357
hg18158357
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5386n100
Supporting Variantsnssv3639436, nssv3639438, nssv3639437
Samples
Known GenesJADE1, SCLT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018994
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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