A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452239



Internal ID18275057
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 loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428269
Supporting Variants
SamplesNA19181
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)nssv452239
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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