A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25501



Internal ID15488161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42945271..42988334hg38UCSC Ensembl
Outerchr19:42943647..42989307hg38UCSC Ensembl
Innerchr19:43449423..43492486hg19UCSC Ensembl
Outerchr19:43447799..43493459hg19UCSC Ensembl
Innerchr19:48141263..48184326hg18UCSC Ensembl
Outerchr19:48139639..48185299hg18UCSC Ensembl
Innerchr19:48141263..48184326hg17UCSC Ensembl
Outerchr19:48139639..48185299hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3845661
hg1945661
hg1845661
hg1745661
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9730
Supporting Variants
SamplesNA18537
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)nssv25501
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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