A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29124



Internal ID15495173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131220033..131224330hg38UCSC Ensembl
Outerchr2:131219188..131224920hg38UCSC Ensembl
Innerchr2:131977606..131981903hg19UCSC Ensembl
Outerchr2:131976761..131982493hg19UCSC Ensembl
Innerchr2:131694076..131698373hg18UCSC Ensembl
Outerchr2:131693231..131698963hg18UCSC Ensembl
Innerchr2:131811338..131815635hg17UCSC Ensembl
Outerchr2:131810493..131816225hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg385733
hg195733
hg185733
hg175733
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA19132
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)nssv29124
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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