A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21421



Internal ID15844764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161457621..161462173hg38UCSC Ensembl
Outerchr1:161457212..161463930hg38UCSC Ensembl
Innerchr1:161427411..161431963hg19UCSC Ensembl
Outerchr1:161427002..161433720hg19UCSC Ensembl
Innerchr1:159694035..159698587hg18UCSC Ensembl
Outerchr1:159693626..159700344hg18UCSC Ensembl
Innerchr1:158240466..158245018hg17UCSC Ensembl
Outerchr1:158240057..158246775hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg386719
hg196719
hg186719
hg176719
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8491
Supporting Variants
SamplesNA19240
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)nssv21421
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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