A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453007



Internal ID18274101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21590306..21914912hg38UCSC Ensembl
Innerchr16:21601627..21926233hg19UCSC Ensembl
Innerchr16:21509128..21833734hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38324607
hg19324607
hg18324607
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428322
Supporting Variants
SamplesHGDP01087
Known GenesIGSF6, LOC100190986, METTL9, OTOA, RRN3P1
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)nssv453007
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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