A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29096



Internal ID15496725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131223453..131230300hg38UCSC Ensembl
Outerchr2:131223134..131230630hg38UCSC Ensembl
Innerchr2:131981026..131987873hg19UCSC Ensembl
Outerchr2:131980707..131988203hg19UCSC Ensembl
Innerchr2:131697496..131704343hg18UCSC Ensembl
Outerchr2:131697177..131704673hg18UCSC Ensembl
Innerchr2:131814758..131821605hg17UCSC Ensembl
Outerchr2:131814439..131821935hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg387497
hg197497
hg187497
hg177497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA19173
Known GenesPOTEE
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)nssv29096
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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