A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8735



Internal ID15846647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:207648348..207655104hg38UCSC Ensembl
Outerchr1:207821693..207828449hg19UCSC Ensembl
Outerchr1:205888316..205895072hg18UCSC Ensembl
Outerchr1:204210088..204216844hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg386757
hg196757
hg186757
hg176757
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv21759, nssv22425, nssv24585, nssv25712
SamplesNA18563, NA18975, NA18537, NA12740
Known GenesCR1L
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)nsv8735
Frequency
Sample Size31
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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