A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023892



Internal ID18766425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:139377986..139483575hg38UCSC Ensembl
Innerchr4:140299140..140404729hg19UCSC Ensembl
Innerchr4:140518590..140624179hg18UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg38105590
hg19105590
hg18105590
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3744246
Samples
Known GenesNAA15, RAB33B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023892
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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