A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066247



Internal ID19155466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12992198..13224699hg38UCSC Ensembl
Innerchr21:14364519..14597020hg19UCSC Ensembl
Innerchr21:13286390..13518891hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38232502
hg19232502
hg18232502
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4376n100
Supporting Variantsnssv3585245, nssv3585246, nssv3585244, nssv3585243
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)nsv1066247
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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