A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21780



Internal ID15843903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121346126..121364129hg38UCSC Ensembl
Outerchr1:121345595..121364641hg38UCSC Ensembl
Innerchr1:121087992..121105990hg19UCSC Ensembl
Outerchr1:121087461..121106502hg19UCSC Ensembl
Innerchr1:120789515..120807513hg18UCSC Ensembl
Outerchr1:120788984..120808025hg18UCSC Ensembl
Innerchr1:120700034..120718032hg17UCSC Ensembl
Outerchr1:120699503..120718544hg17UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3819047
hg1919042
hg1819042
hg1719042
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10783
Supporting Variants
SamplesNA19221
Known GenesSRGAP2-AS1
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)nssv21780
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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