A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16109



Internal ID15842865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21455488..21467151hg38UCSC Ensembl
Outerchr1:21454576..21467571hg38UCSC Ensembl
Innerchr1:21781981..21793644hg19UCSC Ensembl
Outerchr1:21781069..21794064hg19UCSC Ensembl
Innerchr1:21654568..21666231hg18UCSC Ensembl
Outerchr1:21653656..21666651hg18UCSC Ensembl
Innerchr1:21527287..21538950hg17UCSC Ensembl
Outerchr1:21526375..21539370hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3812996
hg1912996
hg1812996
hg1712996
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9435
Supporting Variants
SamplesNA19173
Known GenesNBPF3
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)nssv16109
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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