A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428191



Internal ID18277955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:157557661..158063543hg38UCSC Ensembl
Innerchr7:157350355..157856235hg19UCSC Ensembl
Innerchr7:157043116..157548996hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38505883
hg19505881
hg18505881
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451351
SamplesHGDP00450
Known GenesLOC100506585, MIR153-2, PTPRN2
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)nsv428191
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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