A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13108



Internal ID15496098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25259429..25337956hg38UCSC Ensembl
Outerchr1:25258853..25338366hg38UCSC Ensembl
Innerchr1:25585920..25664447hg19UCSC Ensembl
Outerchr1:25585344..25664857hg19UCSC Ensembl
Innerchr1:25458507..25537034hg18UCSC Ensembl
Outerchr1:25457931..25537444hg18UCSC Ensembl
Innerchr1:25331238..25409763hg17UCSC Ensembl
Outerchr1:25330662..25410173hg17UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3879514
hg1979514
hg1879514
hg1779512
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9768
Supporting Variants
SamplesNA19144
Known GenesRHD, TMEM50A
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)nssv13108
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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