A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13090



Internal ID15484951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16475229..16500874hg38UCSC Ensembl
Outerchr1:16474172..16501926hg38UCSC Ensembl
Innerchr1:16801724..16827369hg19UCSC Ensembl
Outerchr1:16800667..16828421hg19UCSC Ensembl
Innerchr1:16674311..16699956hg18UCSC Ensembl
Outerchr1:16673254..16701008hg18UCSC Ensembl
Innerchr1:16547030..16572675hg17UCSC Ensembl
Outerchr1:16545973..16573727hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3827755
hg1927755
hg1827755
hg1727755
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA12802
Known GenesCROCCP3
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)nssv13090
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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