A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998896



Internal ID18811746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197283052..197371942hg38UCSC Ensembl
Innerchr2:198147776..198236666hg19UCSC Ensembl
Innerchr2:197856021..197944911hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3888891
hg1988891
hg1888891
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4149n100
Supporting Variantsnssv3729327
Samples
Known GenesANKRD44
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998896
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