A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8313



Internal ID15846225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120953331..120954653hg38UCSC Ensembl
Outerchr1:149616657..149617976hg19UCSC Ensembl
Outerchr1:147883281..147884600hg18UCSC Ensembl
Outerchr1:146429730..146431049hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381323
hg191320
hg181320
hg171320
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv21416, nssv21411, nssv26195
SamplesNA18860, NA19007, NA19221
Known GenesLINC00623, LINC00869
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)nsv8313
Frequency
Sample Size31
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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