A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999655



Internal ID18812505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:185141020..185283295hg38UCSC Ensembl
Innerchr3:184858808..185001083hg19UCSC Ensembl
Innerchr3:186341502..186483777hg18UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38142276
hg19142276
hg18142276
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5002n100
Supporting Variantsnssv3615008
Samples
Known GenesC3orf70, EHHADH, EHHADH-AS1, MAP3K13, MIR5588
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999655
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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