A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428148



Internal ID18277912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57788604..58080639hg38UCSC Ensembl
Innerchr6:58137660..58406917hg19UCSC Ensembl
Innerchr6:58245619..58514876hg18UCSC Ensembl
Cytoband6p11.1
Allele length
AssemblyAllele length
hg38292036
hg19269258
hg18269258
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450750
SamplesHGDP00463
Known GenesGUSBP4
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)nsv428148
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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