A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428358



Internal ID18624808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:78069754..78768164hg38UCSC Ensembl
Innerchr18:75829754..76528164hg19UCSC Ensembl
Innerchr18:73930742..74629152hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38698411
hg19698411
hg18698411
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453600, nssv453597, nssv453601, nssv453596, nssv453595, nssv453599
SamplesHGDP00462, NA18498, HGDP00476, HGDP00460, NA19113, HGDP01086
Known Genes
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)nsv428358
Frequency
Sample Size62
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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