A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25290



Internal ID15828653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51593613..51596427hg38UCSC Ensembl
Outerchr19:51592978..51597975hg38UCSC Ensembl
Innerchr19:52096866..52099680hg19UCSC Ensembl
Outerchr19:52096231..52101228hg19UCSC Ensembl
Innerchr19:56788678..56791492hg18UCSC Ensembl
Outerchr19:56788043..56793040hg18UCSC Ensembl
Innerchr19:56788678..56791492hg17UCSC Ensembl
Outerchr19:56788043..56793040hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg384998
hg194998
hg184998
hg174998
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9740
Supporting Variants
SamplesNA10839
Known GenesFLJ30403
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)nssv25290
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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