A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27621



Internal ID15832825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73783948..73809278hg38UCSC Ensembl
Outerchr2:73783440..73810133hg38UCSC Ensembl
Innerchr2:74011075..74036405hg19UCSC Ensembl
Outerchr2:74010567..74037260hg19UCSC Ensembl
Innerchr2:73864583..73889913hg18UCSC Ensembl
Outerchr2:73864075..73890768hg18UCSC Ensembl
Innerchr2:73922730..73948060hg17UCSC Ensembl
Outerchr2:73922222..73948915hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3826694
hg1926694
hg1826694
hg1726694
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10024
Supporting Variants
SamplesNA18502
Known GenesC2orf78
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)nssv27621
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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