A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428244



Internal ID18278008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:882364..1061595hg38UCSC Ensembl
Innerchr11:882364..1061595hg19UCSC Ensembl
Innerchr11:872364..1051595hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38179232
hg19179232
hg18179232
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452009, nssv452007, nssv452014, nssv452012, nssv452010, nssv452011, nssv452013
SamplesHGDP00463, NA19147, HGDP00462, NA18498, HGDP00986, NA19225, HGDP00449
Known GenesAP2A2, CHID1, MUC6
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)nsv428244
Frequency
Sample Size62
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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