A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13743



Internal ID15481459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25362183..25367113hg38UCSC Ensembl
Outerchr1:25361773..25369235hg38UCSC Ensembl
Innerchr1:25688674..25693604hg19UCSC Ensembl
Outerchr1:25688264..25695726hg19UCSC Ensembl
Innerchr1:25561261..25566191hg18UCSC Ensembl
Outerchr1:25560851..25568313hg18UCSC Ensembl
Innerchr1:25433990..25438920hg17UCSC Ensembl
Outerchr1:25433580..25441042hg17UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg387463
hg197463
hg187463
hg177463
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9768
Supporting Variants
SamplesNA07048
Known GenesRHCE, TMEM50A
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)nssv13743
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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