A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006584



Internal ID18749115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:179227034..179523641hg38UCSC Ensembl
Innerchr3:178944822..179241429hg19UCSC Ensembl
Innerchr3:180427516..180724123hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38296608
hg19296608
hg18296608
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4999n100
Supporting Variantsnssv3614991
Samples
Known GenesGNB4, KCNMB3, MFN1, PIK3CA, ZNF639
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006584
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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