A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428144



Internal ID18277908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:38621193..38743309hg38UCSC Ensembl
Innerchr6:38588969..38711085hg19UCSC Ensembl
Innerchr6:38696947..38819063hg18UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38122117
hg19122117
hg18122117
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450740
SamplesNA19181
Known GenesBTBD9, DNAH8, GLO1
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)nsv428144
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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