A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26385



Internal ID15834282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196742923..196753891hg38UCSC Ensembl
Outerchr1:196742493..196754789hg38UCSC Ensembl
Innerchr1:196712053..196723021hg19UCSC Ensembl
Outerchr1:196711623..196723919hg19UCSC Ensembl
Innerchr1:194978676..194989644hg18UCSC Ensembl
Outerchr1:194978246..194990542hg18UCSC Ensembl
Innerchr1:193443710..193454678hg17UCSC Ensembl
Outerchr1:193443280..193455576hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3812297
hg1912297
hg1812297
hg1712297
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8691
Supporting Variants
SamplesNA18517
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)nssv26385
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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