A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8887



Internal ID15500113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:550660..557709hg38UCSC Ensembl
Outerchr12:659826..666875hg19UCSC Ensembl
Outerchr12:530087..537136hg18UCSC Ensembl
Outerchr12:530087..537136hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387050
hg197050
hg187050
hg177050
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23096
SamplesNA18502
Known GenesB4GALNT3
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv8887
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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