A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428300



Internal ID18278064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30000741..30759502hg38UCSC Ensembl
Innerchr15:30292944..31051705hg19UCSC Ensembl
Innerchr15:28080236..28838997hg18UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg38758762
hg19758762
hg18758762
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452647, nssv452657, nssv452648, nssv452654, nssv452655, nssv452658, nssv452652, nssv452660, nssv452651, nssv452656, nssv452649, nssv452650
SamplesHGDP00450, HGDP00474, NA19257, NA19096, NA18916, NA19181, HGDP01089, HGDP00467, NA18498, HGDP00478, NA19113, HGDP00471
Known GenesARHGAP11B, CHRFAM7A, DKFZP434L187, GOLGA8H, GOLGA8J, GOLGA8T, LOC100288637, LOC101059918, ULK4P1, ULK4P2, ULK4P3
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)nsv428300
Frequency
Sample Size62
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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