A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452249



Internal ID18274265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8123950..8471391hg38UCSC Ensembl
Innerchr12:8276546..8623987hg19UCSC Ensembl
Innerchr12:8167813..8515254hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38347442
hg19347442
hg18347442
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428270
Supporting Variants
SamplesHGDP01093
Known GenesCLEC4A, CLEC6A, FAM66C, FAM86FP, FAM90A1, LINC00937, POU5F1P3, 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)nssv452249
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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