A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044002



Internal ID19133221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:60134887..60185715hg38UCSC Ensembl
Innerchr13:60709021..60759849hg19UCSC Ensembl
Innerchr13:59607022..59657850hg18UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3850829
hg1950829
hg1850829
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3711767
Samples
Known GenesDIAPH3, DIAPH3-AS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044002
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