A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575282



Internal ID16016005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46334049..46487204hg38UCSC Ensembl
Innerchr17:44411415..44564570hg19UCSC Ensembl
Innerchr17:41767177..41919886hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38153156
hg19153156
hg18152710
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5646n54
Supporting Variantsnssv872566, nssv872565
Samples
Known GenesARL17A, ARL17B, LRRC37A, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575282
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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