A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055300



Internal ID19144519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10420787..10775598hg38UCSC Ensembl
Innerchr21:10736859..11091670hg19UCSC Ensembl
Innerchr21:9758730..10113541hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38354812
hg19354812
hg18354812
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4354n100
Supporting Variantsnssv3583764, nssv3583766, nssv3583762, nssv3583772, nssv3583768, nssv3583765, nssv3732512, nssv3583760, nssv3583763, nssv3583770, nssv3583761, nssv3732513, nssv3583767, nssv3583771, nssv3583769
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)nsv1055300
Frequency
Sample Size11257
Observed Gain13
Observed Loss2
Observed Complex0
Frequencyn/a


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