A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv451321



Internal ID18273749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143450682..144500577hg38UCSC Ensembl
Innerchr7:143147775..144197670hg19UCSC Ensembl
Innerchr7:142857897..143828603hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381049896
hg191049896
hg18970707
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428188
Supporting Variants
SamplesHGDP00476
Known GenesARHGEF34P, ARHGEF35, ARHGEF5, CTAGE15, CTAGE4, CTAGE6, CTAGE8, EPHA1-AS1, FAM115A, FAM115C, LOC154761, NOBOX, OR2A1, OR2A12, OR2A14, OR2A2, OR2A20P, OR2A25, OR2A42, OR2A5, OR2A7, OR2A9P, OR2F1, OR2F2, OR6B1, RNU6-57P, TAS2R41, TPK1
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)nssv451321
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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