A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29109



Internal ID15832756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131547826..131668002hg38UCSC Ensembl
Outerchr2:131547440..131670003hg38UCSC Ensembl
Innerchr2:132305399..132425575hg19UCSC Ensembl
Outerchr2:132305013..132427576hg19UCSC Ensembl
Innerchr2:132021869..132142045hg18UCSC Ensembl
Outerchr2:132021483..132144046hg18UCSC Ensembl
Innerchr2:132139131..132259307hg17UCSC Ensembl
Outerchr2:132138745..132261308hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38122564
hg19122564
hg18122564
hg17122564
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10186
Supporting Variants
SamplesNA18502
Known GenesLINC01087, POTEKP, RNU6-81P
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)nssv29109
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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