A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575301



Internal ID16016024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46347360..46710944hg38UCSC Ensembl
Innerchr17:44424726..44788310hg19UCSC Ensembl
Innerchr17:41780482..42143493hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38363585
hg19363585
hg18363012
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5644n54
Supporting Variantsnssv872609
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)nsv575301
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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