A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060652



Internal ID19149871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10386269..10775598hg38UCSC Ensembl
Innerchr21:10736859..11126188hg19UCSC Ensembl
Innerchr21:9758730..10148059hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38389330
hg19389330
hg18389330
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4354n100
Supporting Variantsnssv3583779, nssv3583782, nssv3583780, nssv3583781
Samples
Known GenesBAGE, BAGE2, 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)nsv1060652
Frequency
Sample Size11257
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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