A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24789



Internal ID15835581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:35170283..35171905hg38UCSC Ensembl
Outerchr19:35169858..35173666hg38UCSC Ensembl
Innerchr19:35661186..35662808hg19UCSC Ensembl
Outerchr19:35660761..35664569hg19UCSC Ensembl
Innerchr19:40353026..40354648hg18UCSC Ensembl
Outerchr19:40352601..40356409hg18UCSC Ensembl
Innerchr19:40353026..40354648hg17UCSC Ensembl
Outerchr19:40352601..40356409hg17UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg383809
hg193809
hg183809
hg173809
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9709
Supporting Variants
SamplesNA18552
Known GenesFXYD5
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)nssv24789
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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