A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9004



Internal ID15500230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:99399639..99409701hg38UCSC Ensembl
Outerchr12:99793417..99803479hg19UCSC Ensembl
Outerchr12:98317548..98327610hg18UCSC Ensembl
Outerchr12:98295885..98305947hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3810063
hg1910063
hg1810063
hg1710063
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18791, nssv26127, nssv24031, nssv23932, nssv24474
SamplesNA18860, NA18502, NA12872, NA19221, NA19132
Known GenesANKS1B
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)nsv9004
Frequency
Sample Size31
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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