A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058730



Internal ID19147949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:19099554..19161368hg38UCSC Ensembl
Innerchr21:20471872..20533686hg19UCSC Ensembl
Innerchr21:19393743..19455557hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3861815
hg1961815
hg1861815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3599816
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058730
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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