A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22432



Internal ID15839101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161441721..161442413hg38UCSC Ensembl
Outerchr1:161440689..161442822hg38UCSC Ensembl
Innerchr1:161411511..161412203hg19UCSC Ensembl
Outerchr1:161410479..161412612hg19UCSC Ensembl
Innerchr1:159678135..159678827hg18UCSC Ensembl
Outerchr1:159677103..159679236hg18UCSC Ensembl
Innerchr1:158224584..158225276hg17UCSC Ensembl
Outerchr1:158223552..158225685hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg382134
hg192134
hg182134
hg172134
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8491
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)nssv22432
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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