A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23371



Internal ID15828879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:242879508..243006838hg38UCSC Ensembl
Outerchr1:242878896..243011539hg38UCSC Ensembl
Innerchr1:243042810..243170140hg19UCSC Ensembl
Outerchr1:243042198..243174841hg19UCSC Ensembl
Innerchr1:241109433..241236763hg18UCSC Ensembl
Outerchr1:241108821..241241464hg18UCSC Ensembl
Innerchr1:239368851..239496181hg17UCSC Ensembl
Outerchr1:239368239..239500882hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38132644
hg19132644
hg18132644
hg17132644
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9003
Supporting Variants
SamplesNA10847
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)nssv23371
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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