A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25518



Internal ID15483379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54748512..54785245hg38UCSC Ensembl
Outerchr19:54744346..54785679hg38UCSC Ensembl
Innerchr19:55259964..55296697hg19UCSC Ensembl
Outerchr19:55255794..55297131hg19UCSC Ensembl
Innerchr19:59951776..59988509hg18UCSC Ensembl
Outerchr19:59947606..59988943hg18UCSC Ensembl
Innerchr19:59951776..59988509hg17UCSC Ensembl
Outerchr19:59947606..59988943hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3841334
hg1941338
hg1841338
hg1741338
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9761
Supporting Variants
SamplesNA11830
Known GenesKIR2DL1, KIR2DL3
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)nssv25518
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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