A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3714941



Internal ID19013222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19495611..19685853hg38UCSC Ensembl
Innerchr13:20069751..20259993hg19UCSC Ensembl
Innerchr13:18967751..19157993hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38190243
hg19190243
hg18190243
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1051666
Supporting Variants
Samples
Known GenesMPHOSPH8, PSPC1, TPTE2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3714941
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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