A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065941



Internal ID18808472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10338676..10459840hg38UCSC Ensembl
Innerchr21:11052617..11173781hg19UCSC Ensembl
Innerchr21:10074488..10195652hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38121165
hg19121165
hg18121165
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4373n100
Supporting Variantsnssv3585195, nssv3585196, nssv3732553, nssv3732552
Samples
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065941
Frequency
Sample Size29084
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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