A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428343



Internal ID18278107
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453472, nssv453457, nssv453473, nssv453477, nssv453475, nssv453460, nssv453467, nssv453461, nssv453459, nssv453462, nssv453455, nssv453470, nssv453456, nssv453471, nssv453474, nssv453469, nssv453468, nssv453454, nssv453458, nssv453466
SamplesHGDP00450, HGDP00463, HGDP00984, NA19257, NA19108, HGDP00476, HGDP00462, HGDP01093, HGDP01087, HGDP01094, NA19096, NA18916, NA19181, HGDP01089, HGDP00986, NA19225, NA19113, HGDP00460, HGDP00473, HGDP00471
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)nsv428343
Frequency
Sample Size62
Observed Gain16
Observed Loss4
Observed Complex0
Frequencyn/a


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