A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452240



Internal ID18274856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7704223..8471391hg38UCSC Ensembl
Innerchr12:7856819..8623987hg19UCSC Ensembl
Innerchr12:7748086..8515254hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38767169
hg19767169
hg18767169
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428270
Supporting Variants
SamplesNA19113
Known GenesC3AR1, CLEC4A, CLEC4C, CLEC6A, DPPA3, FAM66C, FAM86FP, FAM90A1, FOXJ2, LINC00937, NANOG, NANOGNB, NECAP1, POU5F1P3, SLC2A14, SLC2A3, ZNF705A
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)nssv452240
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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