A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18090



Internal ID15843712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:95287999..95289274hg38UCSC Ensembl
Outerchr1:95287187..95301693hg38UCSC Ensembl
Innerchr1:95753555..95754830hg19UCSC Ensembl
Outerchr1:95752743..95767249hg19UCSC Ensembl
Innerchr1:95526143..95527418hg18UCSC Ensembl
Outerchr1:95525331..95539837hg18UCSC Ensembl
Innerchr1:95465576..95466851hg17UCSC Ensembl
Outerchr1:95464764..95479270hg17UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3814507
hg1914507
hg1814507
hg1714507
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10384
Supporting Variants
SamplesNA19221
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)nssv18090
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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