A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25232



Internal ID15841216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:44410074..44415481hg38UCSC Ensembl
Outerchr19:44408895..44416854hg38UCSC Ensembl
Innerchr19:44914240..44919650hg19UCSC Ensembl
Outerchr19:44913061..44921021hg19UCSC Ensembl
Innerchr19:49606080..49611490hg18UCSC Ensembl
Outerchr19:49604901..49612861hg18UCSC Ensembl
Innerchr19:49606080..49611490hg17UCSC Ensembl
Outerchr19:49604901..49612861hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg387960
hg197961
hg187961
hg177961
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9734
Supporting Variants
SamplesNA19007
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)nssv25232
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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