A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453461



Internal ID18273945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46314456..46836265hg38UCSC Ensembl
Innerchr17:44391822..44913631hg19UCSC Ensembl
Innerchr17:41747597..42268630hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38521810
hg19521810
hg18521034
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428343
Supporting Variants
SamplesHGDP00986
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1, WNT3
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nssv453461
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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