A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24295



Internal ID15840117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196915114..196950828hg38UCSC Ensembl
Outerchr1:196914654..196951298hg38UCSC Ensembl
Innerchr1:196884244..196919958hg19UCSC Ensembl
Outerchr1:196883784..196920428hg19UCSC Ensembl
Innerchr1:195150867..195186581hg18UCSC Ensembl
Outerchr1:195150407..195187051hg18UCSC Ensembl
Innerchr1:193615901..193651615hg17UCSC Ensembl
Outerchr1:193615441..193652085hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3836645
hg1936645
hg1836645
hg1736645
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8691
Supporting Variants
SamplesNA18975
Known GenesCFHR2, CFHR4
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)nssv24295
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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