A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23678



Internal ID15827150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161444186..161447382hg38UCSC Ensembl
Outerchr1:161442822..161449139hg38UCSC Ensembl
Innerchr1:161413976..161417172hg19UCSC Ensembl
Outerchr1:161412612..161418929hg19UCSC Ensembl
Innerchr1:159680600..159683796hg18UCSC Ensembl
Outerchr1:159679236..159685553hg18UCSC Ensembl
Innerchr1:158227033..158230227hg17UCSC Ensembl
Outerchr1:158225685..158231984hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg386318
hg196318
hg186318
hg176300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8491
Supporting Variants
SamplesNA07029
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)nssv23678
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer