A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428133



Internal ID5948203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:180232451..180786488hg19UCSC Ensembl
Innerchr5:180165057..180719094hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv450561, nssv450560, nssv450562
SamplesHGDP00467, HGDP00473, HGDP00472
Known GenesBTNL3, BTNL8, BTNL9, GNB2L1, LOC100132062, LOC100132287, LOC100133331, LOC729678, MGAT1, MIR4638, OR2V2, SNORD95, SNORD96A, TRIM41, TRIM52, TRIM7, ZFP62
Method
AnalysisCNVRs were generated by merging all individual human CNV calls.
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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