A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12356



Internal ID15841074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:123338936..124334372hg38UCSC Ensembl
Outerchr4:123328539..124334971hg38UCSC Ensembl
Innerchr4:124260091..125255527hg19UCSC Ensembl
Outerchr4:124249694..125256126hg19UCSC Ensembl
Innerchr4:124479541..125474977hg18UCSC Ensembl
Outerchr4:124469144..125475576hg18UCSC Ensembl
Innerchr4:124617696..125613132hg17UCSC Ensembl
Outerchr4:124607299..125613731hg17UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg381006433
hg191006433
hg181006433
hg171006433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10562
Supporting Variants
SamplesNA19007
Known GenesLINC01091, SPRY1
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)nssv12356
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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