A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010865



Internal ID18753398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:106236698..107890969hg38UCSC Ensembl
Innerchr2:106853154..108507425hg19UCSC Ensembl
Innerchr2:106219586..107873857hg18UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg381654272
hg191654272
hg181654272
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4034n100
Supporting Variantsnssv3580113
Samples
Known GenesPLGLA, RGPD3, RGPD4, RGPD4-AS1, ST6GAL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010865
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