A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553585



Internal ID16340994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:17491600..17500278hg38UCSC Ensembl
Innerchr11:17513147..17521825hg19UCSC Ensembl
Innerchr11:17469723..17478401hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg388679
hg198679
hg188679
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175081
SamplesNINDS_258
Known GenesUSH1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv553585
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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