A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058148



Internal ID18800679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10338676..10529640hg38UCSC Ensembl
Innerchr21:10982817..11173781hg19UCSC Ensembl
Innerchr21:10004688..10195652hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38190965
hg19190965
hg18190965
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4369n100
Supporting Variantsnssv3585110, nssv3585109
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)nsv1058148
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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