A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27048



Internal ID15498229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54797793..54816084hg38UCSC Ensembl
Outerchr19:54797212..54816580hg38UCSC Ensembl
Innerchr19:55309246..55327539hg19UCSC Ensembl
Outerchr19:55308665..55328035hg19UCSC Ensembl
Innerchr19:60001058..60019351hg18UCSC Ensembl
Outerchr19:60000477..60019847hg18UCSC Ensembl
Innerchr19:60001058..60019351hg17UCSC Ensembl
Outerchr19:60000477..60019847hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3819369
hg1919371
hg1819371
hg1719371
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9761
Supporting Variants
SamplesNA19240
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)nssv27048
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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