A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27866



Internal ID15491308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54749961..54751555hg38UCSC Ensembl
Outerchr19:54749448..54753056hg38UCSC Ensembl
Innerchr19:55261413..55263007hg19UCSC Ensembl
Outerchr19:55260900..55264508hg19UCSC Ensembl
Innerchr19:59953225..59954819hg18UCSC Ensembl
Outerchr19:59952712..59956320hg18UCSC Ensembl
Innerchr19:59953225..59954819hg17UCSC Ensembl
Outerchr19:59952712..59956320hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg383609
hg193609
hg183609
hg173609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9761
Supporting Variants
SamplesNA18860
Known GenesKIR2DL3
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)nssv27866
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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