A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428248



Internal ID18624698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4034715..4488958hg38UCSC Ensembl
Innerchr11:4055945..4510188hg19UCSC Ensembl
Innerchr11:4012521..4466764hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38454244
hg19454244
hg18454244
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452028, nssv452047, nssv452040, nssv452041, nssv452037, nssv452039, nssv452046, nssv452036, nssv452043, nssv452048, nssv452038
SamplesHGDP00462, HGDP00463, HGDP01089, NA19189, HGDP00473, NA19181, NA19225, NA19108, NA19147, HGDP00984, NA19096
Known GenesLOC100506082, OR52B4, OR52K1, OR52K2, RRM1, STIM1, TRIM21
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)nsv428248
Frequency
Sample Size62
Observed Gain10
Observed Loss1
Observed Complex0
Frequencyn/a


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