A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060258



Internal ID19149477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10472887..10775598hg38UCSC Ensembl
Innerchr21:10736859..11039570hg19UCSC Ensembl
Innerchr21:9758730..10061441hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38302712
hg19302712
hg18302712
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4353n100
Supporting Variantsnssv3583737, nssv3583736
Samples
Known GenesBAGE2, BAGE3, BAGE4, BAGE5, TPTE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060258
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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