A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575302



Internal ID16016025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46347360..46715917hg38UCSC Ensembl
Innerchr17:44424726..44793283hg19UCSC Ensembl
Innerchr17:41780482..42148466hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38368558
hg19368558
hg18367985
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5647n54
Supporting Variantsnssv872610
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)nsv575302
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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