A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575383



Internal ID16016106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46551800..46685223hg38UCSC Ensembl
Innerchr17:44629166..44762589hg19UCSC Ensembl
Innerchr17:41984482..42117769hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38133424
hg19133424
hg18133288
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5657n54
Supporting Variantsnssv872808, nssv872810, nssv872812, nssv872813, nssv872807, nssv872811, nssv872809
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)nsv575383
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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