A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24273



Internal ID15827560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161458973..161462173hg38UCSC Ensembl
Outerchr1:161457621..161463930hg38UCSC Ensembl
Innerchr1:161428763..161431963hg19UCSC Ensembl
Outerchr1:161427411..161433720hg19UCSC Ensembl
Innerchr1:159695387..159698587hg18UCSC Ensembl
Outerchr1:159694035..159700344hg18UCSC Ensembl
Innerchr1:158241818..158245018hg17UCSC Ensembl
Outerchr1:158240466..158246775hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg386310
hg196310
hg186310
hg176310
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)nssv24273
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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