A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22150



Internal ID15485302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47906236..47956569hg38UCSC Ensembl
Outerchr19:47903911..47957242hg38UCSC Ensembl
Innerchr19:48409493..48459826hg19UCSC Ensembl
Outerchr19:48407168..48460499hg19UCSC Ensembl
Innerchr19:53101305..53151638hg18UCSC Ensembl
Outerchr19:53098980..53152311hg18UCSC Ensembl
Innerchr19:53101305..53151638hg17UCSC Ensembl
Outerchr19:53098980..53152311hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3853332
hg1953332
hg1853332
hg1753332
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9739
Supporting Variants
SamplesNA12802
Known GenesSNAR-A1, SNAR-A10, SNAR-A11, SNAR-A12, SNAR-A13, SNAR-A14, SNAR-A2, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-C1, SNAR-C2, SNAR-C3, SNAR-C4, SNAR-C5
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)nssv22150
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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