A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575291



Internal ID16016014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46342566..46710944hg38UCSC Ensembl
Innerchr17:44419932..44788310hg19UCSC Ensembl
Innerchr17:41775690..42143493hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38368379
hg19368379
hg18367804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5647n54
Supporting Variantsnssv872585
Samples
Known GenesARL17A, ARL17B, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575291
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