A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27747



Internal ID15844157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207668643..207671387hg38UCSC Ensembl
Outerchr1:207666908..207673294hg38UCSC Ensembl
Innerchr1:207841988..207844732hg19UCSC Ensembl
Outerchr1:207840253..207846639hg19UCSC Ensembl
Innerchr1:205908611..205911355hg18UCSC Ensembl
Outerchr1:205906876..205913262hg18UCSC Ensembl
Innerchr1:204230383..204233127hg17UCSC Ensembl
Outerchr1:204228648..204235034hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg386387
hg196387
hg186387
hg176387
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8746
Supporting Variants
SamplesNA19221
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)nssv27747
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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