A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25478



Internal ID15487955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42815687..42820934hg38UCSC Ensembl
Outerchr19:42815129..42822741hg38UCSC Ensembl
Innerchr19:43319839..43325086hg19UCSC Ensembl
Outerchr19:43319281..43326893hg19UCSC Ensembl
Innerchr19:48011679..48016926hg18UCSC Ensembl
Outerchr19:48011121..48018733hg18UCSC Ensembl
Innerchr19:48011679..48016926hg17UCSC Ensembl
Outerchr19:48011121..48018733hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg387613
hg197613
hg187613
hg177613
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9730
Supporting Variants
SamplesNA18537
Known GenesLOC100289650
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)nssv25478
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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