A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553678



Internal ID15994401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:20097752..20718575hg38UCSC Ensembl
Innerchr11:20119298..20740121hg19UCSC Ensembl
Innerchr11:20075874..20696697hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38620824
hg19620824
hg18620824
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175084
SamplesHGDP00715
Known GenesDBX1, HTATIP2, NAV2, NELL1, PRMT3, SLC6A5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv553678
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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