A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28914



Internal ID15841847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129947478..130010521hg38UCSC Ensembl
Outerchr2:129946827..130010896hg38UCSC Ensembl
Innerchr2:130705051..130768094hg19UCSC Ensembl
Outerchr2:130704400..130768469hg19UCSC Ensembl
Innerchr2:130421521..130484564hg18UCSC Ensembl
Outerchr2:130420870..130484939hg18UCSC Ensembl
Innerchr2:130421281..130484324hg17UCSC Ensembl
Outerchr2:130420630..130484699hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3864070
hg1964070
hg1864070
hg1764070
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10157
Supporting Variants
SamplesNA19132
Known GenesRAB6C, RAB6C-AS1
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)nssv28914
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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