A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19438



Internal ID15842432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196742923..196851194hg38UCSC Ensembl
Outerchr1:196742493..196852263hg38UCSC Ensembl
Innerchr1:196712053..196820324hg19UCSC Ensembl
Outerchr1:196711623..196821393hg19UCSC Ensembl
Innerchr1:194978676..195086947hg18UCSC Ensembl
Outerchr1:194978246..195088016hg18UCSC Ensembl
Innerchr1:193443710..193551981hg17UCSC Ensembl
Outerchr1:193443280..193553050hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38109771
hg19109771
hg18109771
hg17109771
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8691
Supporting Variants
SamplesNA19144
Known GenesCFH, CFHR1, CFHR3
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)nssv19438
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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