A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428115



Internal ID18624565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21778632..22090409hg38UCSC Ensembl
Innerchr5:21778741..22090518hg19UCSC Ensembl
Innerchr5:21814498..22126275hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38311778
hg19311778
hg18311778
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450395, nssv450399, nssv450397, nssv450401, nssv450402, nssv450396, nssv450394, nssv450400
SamplesHGDP01087, HGDP00463, HGDP00986, HGDP00467, NA19257, HGDP00472, NA19096, HGDP00449
Known GenesCDH12
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)nsv428115
Frequency
Sample Size62
Observed Gain7
Observed Loss1
Observed Complex0
Frequencyn/a


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