A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24583



Internal ID15839161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196805550..196805977hg38UCSC Ensembl
Outerchr1:196805104..196806698hg38UCSC Ensembl
Innerchr1:196774680..196775107hg19UCSC Ensembl
Outerchr1:196774234..196775828hg19UCSC Ensembl
Innerchr1:195041303..195041730hg18UCSC Ensembl
Outerchr1:195040857..195042451hg18UCSC Ensembl
Innerchr1:193506337..193506764hg17UCSC Ensembl
Outerchr1:193505891..193507485hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg381595
hg191595
hg181595
hg171595
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8691
Supporting Variants
SamplesNA18942
Known Genes
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)nssv24583
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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