A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022057



Internal ID18764591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150382799..150435118hg38UCSC Ensembl
Innerchr5:149762362..149814681hg19UCSC Ensembl
Innerchr5:149742555..149794874hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3852320
hg1952320
hg1852320
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648167
Samples
Known GenesCD74, TCOF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022057
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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