A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003021



Internal ID18745553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:179227018..179528391hg38UCSC Ensembl
Innerchr3:178944806..179246179hg19UCSC Ensembl
Innerchr3:180427500..180728873hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38301374
hg19301374
hg18301374
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4999n100
Supporting Variantsnssv3614990
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)nsv1003021
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer