A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428200



Internal ID18624650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:57150948..57303398hg38UCSC Ensembl
Innerchr8:58063507..58215957hg19UCSC Ensembl
Innerchr8:58226061..58378511hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38152451
hg19152451
hg18152451
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451517, nssv451525, nssv451513, nssv451514, nssv451521, nssv451515, nssv451524, nssv451528, nssv451526, nssv451519, nssv451523, nssv451527, nssv451518, nssv451516, nssv451530, nssv451529, nssv451522, nssv451533, nssv451532
SamplesHGDP01087, HGDP01088, NA18916, NA18498, HGDP00476, NA19189, HGDP00460, HGDP00450, NA19113, NA19257, NA19225, NA19108, NA19147, HGDP00984, HGDP00471, NA19096, HGDP00478, HGDP01086, HGDP00449
Known GenesLINC00588, LOC100507651, LOC286177
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)nsv428200
Frequency
Sample Size62
Observed Gain19
Observed Loss0
Observed Complex0
Frequencyn/a


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