A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428310



Internal ID18278074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:84046870..84696426hg38UCSC Ensembl
Innerchr15:84715622..85239657hg19UCSC Ensembl
Innerchr15:82506626..83040661hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38649557
hg19524036
hg18534036
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452814, nssv452804, nssv452812, nssv452833, nssv452815, nssv452832, nssv452830, nssv452813, nssv452811
SamplesHGDP00463, HGDP01093, HGDP01087, HGDP01094, NA19096, HGDP01089, NA19189, HGDP01088, HGDP00472
Known GenesDNM1P41, EFTUD1P1, GOLGA6L4, GOLGA6L5P, LINC00933, LOC100505679, LOC388152, LOC440300, LOC642423, NMB, SCAND2P, SEC11A, UBE2Q2P1, WDR73, ZSCAN2
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)nsv428310
Frequency
Sample Size62
Observed Gain8
Observed Loss1
Observed Complex0
Frequencyn/a


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