A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575395



Internal ID16016118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46576140..46710944hg38UCSC Ensembl
Innerchr17:44653506..44788310hg19UCSC Ensembl
Innerchr17:42008822..42143493hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38134805
hg19134805
hg18134672
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5659n54
Supporting Variantsnssv872850, nssv872851
Samples
Known GenesARL17A, ARL17B, NSF, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575395
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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