A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11933



Internal ID15492515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131267012..131285007hg38UCSC Ensembl
Outerchr2:131265267..131285700hg38UCSC Ensembl
Innerchr2:132024585..132042580hg19UCSC Ensembl
Outerchr2:132022840..132043273hg19UCSC Ensembl
Innerchr2:131741055..131759050hg18UCSC Ensembl
Outerchr2:131739310..131759743hg18UCSC Ensembl
Innerchr2:131858317..131876312hg17UCSC Ensembl
Outerchr2:131856572..131877005hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3820434
hg1920434
hg1820434
hg1720434
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA18972
Known GenesLOC440910
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)nssv11933
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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