A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28142



Internal ID15832699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91879952..91940392hg38UCSC Ensembl
Outerchr2:91879774..91940586hg38UCSC Ensembl
Innerchr2:92067978..92128418hg19UCSC Ensembl
Outerchr2:92067800..92128612hg19UCSC Ensembl
Innerchr2:91431705..91492145hg18UCSC Ensembl
Outerchr2:91431527..91492339hg18UCSC Ensembl
Innerchr2:91489852..91550292hg17UCSC Ensembl
Outerchr2:91489674..91550486hg17UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg3860813
hg1960813
hg1860813
hg1760813
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10085
Supporting Variants
SamplesNA18502
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)nssv28142
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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