A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19988



Internal ID15830982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46830184..46870776hg38UCSC Ensembl
Outerchr10:46830180..46870806hg38UCSC Ensembl
Innerchr10:48868586..48909178hg19UCSC Ensembl
Outerchr10:48868556..48909209hg19UCSC Ensembl
Innerchr10:48488592..48529184hg18UCSC Ensembl
Outerchr10:48488562..48529215hg18UCSC Ensembl
Innerchr10:48488592..48529184hg17UCSC Ensembl
Outerchr10:48488562..48529215hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3840627
hg1940654
hg1840654
hg1740654
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA12155
Known Genes
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)nssv19988
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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