A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587513



Internal ID16028236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41474022..41475509hg38UCSC Ensembl
Innerchr21:42845949..42847436hg19UCSC Ensembl
Innerchr21:41767819..41769306hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381488
hg191488
hg181488
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7839n54
Supporting Variantsnssv946867, nssv946847, nssv946858, nssv946851, nssv946877, nssv946879, nssv946860, nssv946853, nssv946880, nssv946854, nssv946833, nssv946846, nssv946868, nssv946864, nssv946866, nssv946874, nssv946845, nssv946839, nssv946852, nssv946856, nssv946878, nssv946835, nssv946870, nssv946857, nssv946875, nssv946838, nssv946863, nssv946843, nssv946841, nssv946842, nssv946832, nssv946844, nssv946859, nssv946834, nssv946865, nssv946861, nssv946872, nssv946837, nssv946876, nssv946862, nssv946869, nssv946873, nssv946848, nssv946849, nssv946850, nssv946840, nssv946836, nssv946855, nssv946871
Samples
Known GenesTMPRSS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587513
Frequency
Sample Size17421
Observed Gain39
Observed Loss10
Observed Complex0
Frequencyn/a


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