A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22434



Internal ID15840003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161463930..161464622hg38UCSC Ensembl
Outerchr1:161462173..161465032hg38UCSC Ensembl
Innerchr1:161433720..161434412hg19UCSC Ensembl
Outerchr1:161431963..161434822hg19UCSC Ensembl
Innerchr1:159700344..159701036hg18UCSC Ensembl
Outerchr1:159698587..159701446hg18UCSC Ensembl
Innerchr1:158246775..158247467hg17UCSC Ensembl
Outerchr1:158245018..158247877hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg382860
hg192860
hg182860
hg172860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8491
Supporting Variants
SamplesNA18975
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)nssv22434
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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