A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11864



Internal ID15834478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241741985..241755582hg38UCSC Ensembl
Outerchr2:241739481..241755843hg38UCSC Ensembl
Innerchr2:242681400..242694997hg19UCSC Ensembl
Outerchr2:242678896..242695258hg19UCSC Ensembl
Innerchr2:242330073..242343670hg18UCSC Ensembl
Outerchr2:242327569..242343931hg18UCSC Ensembl
Innerchr2:242401390..242414987hg17UCSC Ensembl
Outerchr2:242398886..242415248hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3816363
hg1916363
hg1816363
hg1716363
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10230
Supporting Variants
SamplesNA18517
Known GenesD2HGDH
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)nssv11864
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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