A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007465



Internal ID19096684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239186421..239223680hg38UCSC Ensembl
Innerchr2:240108117..240145376hg19UCSC Ensembl
Innerchr2:239773054..239810313hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3837260
hg1937260
hg1837260
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4195n100
Supporting Variantsnssv3586969, nssv3586968
Samples
Known GenesHDAC4, MGC16025
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007465
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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