A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453710



Internal ID18273858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42716055..42931292hg38UCSC Ensembl
Innerchr19:43220207..43435444hg19UCSC Ensembl
Innerchr19:47912047..48127284hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38215238
hg19215238
hg18215238
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428364
Supporting Variants
SamplesHGDP00984
Known GenesLOC100289650, PSG1, PSG10P, PSG3, PSG6, PSG7, PSG8
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)nssv453710
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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