A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062532



Internal ID18805063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:14244308..14282180hg38UCSC Ensembl
Innerchr21:15616629..15654501hg19UCSC Ensembl
Innerchr21:14538500..14576372hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3837873
hg1937873
hg1837873
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4389n100
Supporting Variantsnssv3586456
Samples
Known GenesABCC13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062532
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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