A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453473



Internal ID18274252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46365745..46812164hg38UCSC Ensembl
Innerchr17:44443111..44889530hg19UCSC Ensembl
Innerchr17:41798857..42244529hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38446420
hg19446420
hg18445673
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428343
Supporting Variants
SamplesHGDP01089
Known GenesARL17A, ARL17B, 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)nssv453473
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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