A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv451325



Internal ID18273236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144042048..144500577hg38UCSC Ensembl
Innerchr7:143739141..144197670hg19UCSC Ensembl
Innerchr7:143370074..143828603hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38458530
hg19458530
hg18458530
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428188
Supporting Variants
SamplesHGDP00462
Known GenesARHGEF34P, ARHGEF35, ARHGEF5, CTAGE4, CTAGE8, NOBOX, OR2A1, OR2A12, OR2A14, OR2A2, OR2A20P, OR2A25, OR2A42, OR2A5, OR2A7, OR2A9P, RNU6-57P, 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)nssv451325
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer