A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999041



Internal ID18811891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:138429970..138629146hg38UCSC Ensembl
Innerchr3:138148812..138347988hg19UCSC Ensembl
Innerchr3:139631502..139830678hg18UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg38199177
hg19199177
hg18199177
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3608330
Samples
Known GenesCEP70, ESYT3, FAIM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999041
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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