A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454101



Internal ID18620610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131023910..131703911hg38UCSC Ensembl
Innerchr2:131781483..132461484hg19UCSC Ensembl
Innerchr2:131497953..132177954hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38680002
hg19680002
hg18680002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428404
Supporting Variants
SamplesHGDP00986
Known GenesARHGEF4, CCDC74A, FAM168B, LINC01087, LINC01120, LOC150776, LOC401010, LOC440910, MIR4784, MZT2A, PLEKHB2, POTEE, POTEKP, RNU6-81P, TUBA3D, WTH3DI
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)nssv454101
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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