A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051944



Internal ID18794475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:68400084..68693075hg38UCSC Ensembl
Innerchr10:70159841..70452832hg19UCSC Ensembl
Innerchr10:69829847..70122838hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38292992
hg19292992
hg18292992
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv919n100
Supporting Variantsnssv3521891
Samples
Known GenesDNA2, RUFY2, SLC25A16, TET1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051944
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