A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21085



Internal ID15840907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212482785..212483919hg38UCSC Ensembl
Outerchr1:212482293..212485416hg38UCSC Ensembl
Innerchr1:212656127..212657261hg19UCSC Ensembl
Outerchr1:212655635..212658758hg19UCSC Ensembl
Innerchr1:210722750..210723884hg18UCSC Ensembl
Outerchr1:210722258..210725381hg18UCSC Ensembl
Innerchr1:209044522..209045656hg17UCSC Ensembl
Outerchr1:209044030..209047153hg17UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg383124
hg193124
hg183124
hg173124
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8780
Supporting Variants
SamplesNA18980
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)nssv21085
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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