A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450745



Internal ID18275315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:46732445..46923866hg38UCSC Ensembl
Innerchr6:46700182..46891603hg19UCSC Ensembl
Innerchr6:46808141..46999562hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38191422
hg19191422
hg18191422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428147
Supporting Variants
SamplesNA19257
Known GenesANKRD66, GPR116, MEP1A, PLA2G7
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)nssv450745
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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