A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8724



Internal ID15499950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:207523570..207578359hg38UCSC Ensembl
Outerchr1:207696915..207751704hg19UCSC Ensembl
Outerchr1:205763538..205818327hg18UCSC Ensembl
Outerchr1:204085310..204140099hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3854790
hg1954790
hg1854790
hg1754790
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23385, nssv24292, nssv23373, nssv23068
SamplesNA18502, NA11830, NA18860, NA18572
Known GenesCR1
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)nsv8724
Frequency
Sample Size31
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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