A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428336



Internal ID18278100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18927239..19288734hg38UCSC Ensembl
Innerchr17:18830552..19192047hg19UCSC Ensembl
Innerchr17:18771277..19132640hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38361496
hg19361496
hg18361364
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453350, nssv453346, nssv453356, nssv453349, nssv453358, nssv453351, nssv453347, nssv453354, nssv453355, nssv453357, nssv453348
SamplesHGDP00450, HGDP00463, HGDP00984, NA19108, NA19147, HGDP00462, NA19096, HGDP00467, NA18498, HGDP00478, HGDP00472
Known GenesEPN2, EPN2-IT1, FAM83G, GRAP, GRAPL, PRPSAP2, SLC5A10
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)nsv428336
Frequency
Sample Size62
Observed Gain9
Observed Loss2
Observed Complex0
Frequencyn/a


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