A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27833



Internal ID15835297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94763164..94790192hg38UCSC Ensembl
Outerchr2:94762711..94790923hg38UCSC Ensembl
Innerchr2:95428909..95455937hg19UCSC Ensembl
Outerchr2:95428456..95456668hg19UCSC Ensembl
Innerchr2:94792636..94819664hg18UCSC Ensembl
Outerchr2:94792183..94820395hg18UCSC Ensembl
Innerchr2:94850783..94877811hg17UCSC Ensembl
Outerchr2:94850330..94878542hg17UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3828213
hg1928213
hg1828213
hg1728213
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10088
Supporting Variants
SamplesNA18552
Known GenesANKRD20A8P
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)nssv27833
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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