A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24764



Internal ID15835586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:29128528..29140015hg38UCSC Ensembl
Outerchr19:29127456..29140649hg38UCSC Ensembl
Innerchr19:29619435..29630922hg19UCSC Ensembl
Outerchr19:29618363..29631556hg19UCSC Ensembl
Innerchr19:34311275..34322762hg18UCSC Ensembl
Outerchr19:34310203..34323396hg18UCSC Ensembl
Innerchr19:34311275..34322762hg17UCSC Ensembl
Outerchr19:34310203..34323396hg17UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3813194
hg1913194
hg1813194
hg1713194
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9704
Supporting Variants
SamplesNA18552
Known Genes
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)nssv24764
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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