A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22435



Internal ID15840623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:242879508..242989271hg38UCSC Ensembl
Outerchr1:242878896..243002012hg38UCSC Ensembl
Innerchr1:243042810..243152573hg19UCSC Ensembl
Outerchr1:243042198..243165314hg19UCSC Ensembl
Innerchr1:241109433..241219196hg18UCSC Ensembl
Outerchr1:241108821..241231937hg18UCSC Ensembl
Innerchr1:239368851..239478614hg17UCSC Ensembl
Outerchr1:239368239..239491355hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38123117
hg19123117
hg18123117
hg17123117
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9003
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)nssv22435
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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