A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063997



Internal ID19153216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13084083..13231256hg38UCSC Ensembl
Innerchr21:14456404..14603577hg19UCSC Ensembl
Innerchr21:13378275..13525448hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38147174
hg19147174
hg18147174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4380n100
Supporting Variantsnssv3585267
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)nsv1063997
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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