A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23807



Internal ID15838706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:37354530..37355078hg38UCSC Ensembl
Outerchr19:37348168..37361970hg38UCSC Ensembl
Innerchr19:37845432..37845980hg19UCSC Ensembl
Outerchr19:37839070..37852872hg19UCSC Ensembl
Innerchr19:42537272..42537820hg18UCSC Ensembl
Outerchr19:42530910..42544712hg18UCSC Ensembl
Innerchr19:42537272..42537820hg17UCSC Ensembl
Outerchr19:42530910..42544712hg17UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3813803
hg1913803
hg1813803
hg1713803
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9718
Supporting Variants
SamplesNA18942
Known GenesHKR1
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)nssv23807
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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