A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24429



Internal ID15495577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33745846..33747333hg38UCSC Ensembl
Outerchr16:33739128..33753190hg38UCSC Ensembl
Innerchr16:33548313..33549800hg19UCSC Ensembl
Outerchr16:33541595..33555657hg19UCSC Ensembl
Innerchr16:33455814..33457301hg18UCSC Ensembl
Outerchr16:33449096..33463158hg18UCSC Ensembl
Innerchr16:33455814..33457301hg17UCSC Ensembl
Outerchr16:33449096..33463158hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3814063
hg1914063
hg1814063
hg1714063
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA19144
Known GenesRNU6-76P
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)nssv24429
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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