A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21451



Internal ID15498083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12828849..12832272hg38UCSC Ensembl
Outerchr1:12828410..12833055hg38UCSC Ensembl
Innerchr1:12888708..12892126hg19UCSC Ensembl
Outerchr1:12888270..12892909hg19UCSC Ensembl
Innerchr1:12811295..12814713hg18UCSC Ensembl
Outerchr1:12810857..12815496hg18UCSC Ensembl
Innerchr1:12822974..12826392hg17UCSC Ensembl
Outerchr1:12822536..12827175hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg384646
hg194640
hg184640
hg174640
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA19240
Known GenesPRAMEF11
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)nssv21451
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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