A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428140



Internal ID18277904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31060513..31494329hg38UCSC Ensembl
Innerchr6:31028290..31462106hg19UCSC Ensembl
Innerchr6:31136269..31570085hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38433817
hg19433817
hg18433817
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450643, nssv450644, nssv450640
SamplesHGDP01093, HGDP00449
Known GenesC6orf15, CCHCR1, CDSN, HCG26, HCG27, HCP5, HLA-B, HLA-C, MICA, MIR6891, POU5F1, PSORS1C1, PSORS1C2, PSORS1C3, TCF19
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)nsv428140
Frequency
Sample Size62
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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