A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26353



Internal ID15495822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54738123..54780293hg38UCSC Ensembl
Outerchr19:54736520..54780715hg38UCSC Ensembl
Innerchr19:55249588..55291745hg19UCSC Ensembl
Outerchr19:55247987..55292167hg19UCSC Ensembl
Innerchr19:59941400..59983557hg18UCSC Ensembl
Outerchr19:59939799..59983979hg18UCSC Ensembl
Innerchr19:59941400..59983557hg17UCSC Ensembl
Outerchr19:59939799..59983979hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3844196
hg1944181
hg1844181
hg1744181
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9761
Supporting Variants
SamplesNA19144
Known GenesKIR2DL1, KIR2DL3, KIR3DL3
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)nssv26353
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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