A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26732



Internal ID15843101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196742923..196747844hg38UCSC Ensembl
Outerchr1:196742493..196748223hg38UCSC Ensembl
Innerchr1:196712053..196716974hg19UCSC Ensembl
Outerchr1:196711623..196717353hg19UCSC Ensembl
Innerchr1:194978676..194983597hg18UCSC Ensembl
Outerchr1:194978246..194983976hg18UCSC Ensembl
Innerchr1:193443710..193448631hg17UCSC Ensembl
Outerchr1:193443280..193449010hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg385731
hg195731
hg185731
hg175731
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8691
Supporting Variants
SamplesNA19173
Known GenesCFH
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)nssv26732
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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