A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428133



Internal ID11591565
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 StatusM
Merged Variants
Supporting Variantsnssv450561, nssv450560, nssv450562
SamplesHGDP00467, HGDP00473, HGDP00472
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)nsv428133
Frequency
Sample Size62
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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