A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28706



Internal ID15836280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129975547..129976113hg38UCSC Ensembl
Outerchr2:129974922..129976800hg38UCSC Ensembl
Innerchr2:130733120..130733686hg19UCSC Ensembl
Outerchr2:130732495..130734373hg19UCSC Ensembl
Innerchr2:130449590..130450156hg18UCSC Ensembl
Outerchr2:130448965..130450843hg18UCSC Ensembl
Innerchr2:130449350..130449916hg17UCSC Ensembl
Outerchr2:130448725..130450603hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381879
hg191879
hg181879
hg171879
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10157
Supporting Variants
SamplesNA18563
Known GenesRAB6C-AS1
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)nssv28706
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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