A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27845



Internal ID15496019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131176729..131191285hg38UCSC Ensembl
Outerchr2:131158153..131191969hg38UCSC Ensembl
Innerchr2:131934302..131948858hg19UCSC Ensembl
Outerchr2:131915726..131949542hg19UCSC Ensembl
Innerchr2:131650772..131665328hg18UCSC Ensembl
Outerchr2:131632196..131666012hg18UCSC Ensembl
Innerchr2:131768034..131782590hg17UCSC Ensembl
Outerchr2:131749458..131783274hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3833817
hg1933817
hg1833817
hg1733817
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA19144
Known Genes
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)nssv27845
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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