A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454100



Internal ID18275079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130326995..130882067hg38UCSC Ensembl
Innerchr2:131084568..131639640hg19UCSC Ensembl
Innerchr2:130801038..131356110hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38555073
hg19555073
hg18555073
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428403
Supporting Variants
SamplesNA19181
Known GenesAMER3, CCDC115, CFC1, CFC1B, CYP4F30P, CYP4F62P, FAR2P2, GPR148, IMP4, LOC646743, POTEI, POTEJ, PTPN18, TISP43
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)nssv454100
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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