A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428114



Internal ID18277878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21149044..21598881hg38UCSC Ensembl
Innerchr5:21149153..21598990hg19UCSC Ensembl
Innerchr5:21184910..21634747hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38449838
hg19449838
hg18449838
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450393, nssv450385, nssv450389, nssv450386, nssv450391, nssv450384, nssv450392, nssv450390, nssv450388, nssv450383
SamplesHGDP01087, HGDP00463, NA19189, HGDP00460, HGDP00467, NA19257, HGDP00984, HGDP00472, NA19096, HGDP00449
Known GenesGUSBP1
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)nsv428114
Frequency
Sample Size62
Observed Gain8
Observed Loss2
Observed Complex0
Frequencyn/a


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