A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13096



Internal ID15488824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16680340..16725524hg38UCSC Ensembl
Outerchr1:16679896..16726067hg38UCSC Ensembl
Innerchr1:17006835..17052019hg19UCSC Ensembl
Outerchr1:17006391..17052562hg19UCSC Ensembl
Innerchr1:16879422..16924606hg18UCSC Ensembl
Outerchr1:16878978..16925149hg18UCSC Ensembl
Innerchr1:16752141..16797325hg17UCSC Ensembl
Outerchr1:16751697..16797868hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3846172
hg1946172
hg1846172
hg1746172
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA18552
Known GenesESPNP, MIR3675
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)nssv13096
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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