A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428257



Internal ID18278021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161436525..161898473hg38UCSC Ensembl
Innerchr1:161406315..161868263hg19UCSC Ensembl
Innerchr1:159672939..160134887hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38461949
hg19461949
hg18461949
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452108, nssv452319, nssv451997, nssv452286, nssv452297, nssv452197, nssv452242, nssv452230, nssv452308, nssv452164, nssv452020, nssv452153, nssv452119, nssv452219, nssv452253, nssv452264, nssv452208, nssv452275, nssv452175, nssv452142, nssv452008, nssv452131, nssv452186
SamplesHGDP01087, HGDP01093, HGDP01088, HGDP01089, NA18916, NA18498, NA19189, HGDP00460, HGDP00450, HGDP00473, HGDP00986, HGDP00467, NA19113, NA19257, NA19108, NA19147, HGDP01094, HGDP00984, HGDP00472, HGDP00471, NA19096, HGDP01086, HGDP00449
Known GenesATF6, DUSP12, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRLA, FCRLB, HSPA6, HSPA7, RPL31P11
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)nsv428257
Frequency
Sample Size62
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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