A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26951



Internal ID15487091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42889005..42889009hg38UCSC Ensembl
Outerchr19:42888922..42891232hg38UCSC Ensembl
Innerchr19:43393157..43393161hg19UCSC Ensembl
Outerchr19:43393074..43395384hg19UCSC Ensembl
Innerchr19:48084997..48085001hg18UCSC Ensembl
Outerchr19:48084914..48087224hg18UCSC Ensembl
Innerchr19:48084997..48085001hg17UCSC Ensembl
Outerchr19:48084914..48087224hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382311
hg192311
hg182311
hg172311
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9730
Supporting Variants
SamplesNA18504
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)nssv26951
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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