A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8968



Internal ID15846880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:238319619..238323559hg38UCSC Ensembl
Outerchr1:238482919..238486859hg19UCSC Ensembl
Outerchr1:236549542..236553482hg18UCSC Ensembl
Outerchr1:234808960..234812900hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg383941
hg193941
hg183941
hg173941
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv20758
SamplesNA19144
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)nsv8968
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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