A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575339



Internal ID16016062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46358514..46706163hg38UCSC Ensembl
Innerchr17:44435880..44783529hg19UCSC Ensembl
Innerchr17:41791622..42138711hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38347650
hg19347650
hg18347090
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5644n54
Supporting Variantsnssv872713
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)nsv575339
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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