A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv451208



Internal ID18620249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:144274482..145483353hg19UCSC Ensembl
Innerchr1:142985839..144194710hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg191208872
hg181208872
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428212
Supporting Variants
SamplesHGDP00472
Known GenesANKRD34A, HFE2, LINC00623, LIX1L, LOC100288142, LOC101929780, LOC653513, LOC728875, NBPF10, NBPF12, NBPF8, NBPF9, NOTCH2NL, PDE4DIP, PFN1P2, POLR3GL, PPIAL4A, PPIAL4B, PPIAL4C, SEC22B, TXNIP
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)nssv451208
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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