A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27604



Internal ID15486120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54165339..54171687hg38UCSC Ensembl
Outerchr19:54164296..54172912hg38UCSC Ensembl
Innerchr19:54669073..54675456hg19UCSC Ensembl
Outerchr19:54668030..54676607hg19UCSC Ensembl
Innerchr19:59360885..59367268hg18UCSC Ensembl
Outerchr19:59359842..59368419hg18UCSC Ensembl
Innerchr19:59360885..59367268hg17UCSC Ensembl
Outerchr19:59359842..59368419hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg388617
hg198578
hg188578
hg178578
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9751
Supporting Variants
SamplesNA18502
Known GenesTMC4
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)nssv27604
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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