A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998997



Internal ID19158533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130027784..130087197hg38UCSC Ensembl
Innerchr3:129746627..129806040hg19UCSC Ensembl
Innerchr3:131229317..131288730hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3859414
hg1959414
hg1859414
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4862n100
Supporting Variantsnssv3603580, nssv3603581
Samples
Known GenesALG1L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998997
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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