A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057768



Internal ID19146987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10502083..10556325hg38UCSC Ensembl
Innerchr21:10956132..11010374hg19UCSC Ensembl
Innerchr21:9978003..10032245hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3854243
hg1954243
hg1854243
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4366n100
Supporting Variantsnssv3732545, nssv3585087, nssv3585088
Samples
Known GenesTPTE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057768
Frequency
Sample Size11257
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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