A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452271



Internal ID18274717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:16112158..16293444hg38UCSC Ensembl
Innerchr12:16265092..16446378hg19UCSC Ensembl
Innerchr12:16156359..16337645hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38181287
hg19181287
hg18181287
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428273
Supporting Variants
SamplesNA19096
Known GenesSLC15A5
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)nssv452271
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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