A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058054



Internal ID19147273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12992198..13064458hg38UCSC Ensembl
Innerchr21:14364519..14436779hg19UCSC Ensembl
Innerchr21:13286390..13358650hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3872261
hg1972261
hg1872261
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3585222, nssv3585223, nssv3585221
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)nsv1058054
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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