A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428140



Internal ID5948437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31028290..31462106hg19UCSC Ensembl
Innerchr6:31136269..31570085hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain+Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv450644, nssv450643, nssv450640
SamplesHGDP01093, HGDP00449
Known GenesC6orf15, CCHCR1, CDSN, HCG26, HCG27, HCP5, HLA-B, HLA-C, MICA, POU5F1, PSORS1C1, PSORS1C2, PSORS1C3, TCF19
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)nsv428140
Frequency
Sample Size62
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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