A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9748



Internal ID15847660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53096283..53099764hg38UCSC Ensembl
Outerchr19:53599536..53603017hg19UCSC Ensembl
Outerchr19:58291348..58294829hg18UCSC Ensembl
Outerchr19:58291348..58294829hg17UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg383482
hg193482
hg183482
hg173482
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28568
SamplesNA19221
Known GenesZNF160
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)nsv9748
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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