A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25824



Internal ID15488314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54786417..54821965hg38UCSC Ensembl
Outerchr19:54785679..54824909hg38UCSC Ensembl
Innerchr19:55297869..55333420hg19UCSC Ensembl
Outerchr19:55297131..55336364hg19UCSC Ensembl
Innerchr19:59989681..60025232hg18UCSC Ensembl
Outerchr19:59988943..60028176hg18UCSC Ensembl
Innerchr19:59989681..60025232hg17UCSC Ensembl
Outerchr19:59988943..60028176hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3839231
hg1939234
hg1839234
hg1739234
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9761
Supporting Variants
SamplesNA18537
Known GenesKIR2DL4, KIR3DL1, LOC100287534
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)nssv25824
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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