A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12077



Internal ID15835957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:131671837..131720719hg38UCSC Ensembl
Outerchr4:131656109..131723130hg38UCSC Ensembl
Innerchr4:132592992..132641874hg19UCSC Ensembl
Outerchr4:132577264..132644285hg19UCSC Ensembl
Innerchr4:132812442..132861324hg18UCSC Ensembl
Outerchr4:132796714..132863735hg18UCSC Ensembl
Innerchr4:132950597..132999479hg17UCSC Ensembl
Outerchr4:132934869..133001890hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3867022
hg1967022
hg1867022
hg1767022
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10567
Supporting Variants
SamplesNA18563
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)nssv12077
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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