A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428269



Internal ID18278033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:45001..235133hg38UCSC Ensembl
Innerchr12:146333..344299hg19UCSC Ensembl
Innerchr12:16594..214560hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38190133
hg19197967
hg18197967
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452238, nssv452221, nssv452239
SamplesHGDP00476, NA19181, HGDP01088
Known GenesFAM138D, IQSEC3, LOC574538, SLC6A12, SLC6A13
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)nsv428269
Frequency
Sample Size62
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer