A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060904



Internal ID19150123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12992198..13262968hg38UCSC Ensembl
Innerchr21:14364519..14635289hg19UCSC Ensembl
Innerchr21:13286390..13557160hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38270771
hg19270771
hg18270771
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4376n100
Supporting Variantsnssv3585255, nssv3585254
Samples
Known GenesANKRD30BP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060904
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