A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575342



Internal ID16016065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46359077..46487204hg38UCSC Ensembl
Innerchr17:44436443..44564570hg19UCSC Ensembl
Innerchr17:41792185..41919886hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38128128
hg19128128
hg18127702
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5641n54
Supporting Variantsnssv872721, nssv872718, nssv872720, nssv872719
Samples
Known GenesARL17A, ARL17B, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575342
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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