A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057189



Internal ID19146408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10469623..10775598hg38UCSC Ensembl
Innerchr21:10736859..11042834hg19UCSC Ensembl
Innerchr21:9758730..10064705hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38305976
hg19305976
hg18305976
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4354n100
Supporting Variantsnssv3583743, nssv3732508, nssv3583744, nssv3583738, nssv3732506, nssv3583742, nssv3583740, nssv3732505, nssv3583745, nssv3583741, nssv3583739, nssv3732507
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)nsv1057189
Frequency
Sample Size11257
Observed Gain11
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer