A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv451488



Internal ID18273420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39244046..39548205hg38UCSC Ensembl
Innerchr8:39101565..39405724hg19UCSC Ensembl
Innerchr8:39220722..39524881hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38304160
hg19304160
hg18304160
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428198
Supporting Variants
SamplesHGDP00467
Known GenesADAM32, ADAM3A, ADAM5
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)nssv451488
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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