A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27584



Internal ID15493115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47903908..47957281hg38UCSC Ensembl
Outerchr19:47903872..47961236hg38UCSC Ensembl
Innerchr19:48407165..48460538hg19UCSC Ensembl
Outerchr19:48407129..48464493hg19UCSC Ensembl
Innerchr19:53098977..53152350hg18UCSC Ensembl
Outerchr19:53098941..53156305hg18UCSC Ensembl
Innerchr19:53098977..53152350hg17UCSC Ensembl
Outerchr19:53098941..53156305hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3857365
hg1957365
hg1857365
hg1757365
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9739
Supporting Variants
SamplesNA18972
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)nssv27584
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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