A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452221



Internal ID18274187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:45001..159643hg38UCSC Ensembl
Innerchr12:146333..268809hg19UCSC Ensembl
Innerchr12:16594..139070hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38114643
hg19122477
hg18122477
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428269
Supporting Variants
SamplesHGDP01088
Known GenesFAM138D, IQSEC3, LOC574538
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)nssv452221
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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