A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450561



Internal ID18273622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180805451..181359487hg38UCSC Ensembl
Innerchr5:180232451..180786488hg19UCSC Ensembl
Innerchr5:180165057..180719094hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38554037
hg19554038
hg18554038
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428133
Supporting Variants
SamplesHGDP00473
Known GenesBTNL3, BTNL8, BTNL9, GNB2L1, HEIH, LINC00847, LOC100132062, LOC100132287, LOC100133331, LOC102577426, MGAT1, MIR4638, MIR8089, OR2V1, OR2V2, SNORD95, SNORD96A, TRIM41, TRIM52, TRIM52-AS1, TRIM7, ZFP62
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)nssv450561
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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