A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28550



Internal ID15491896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12835552..12847190hg38UCSC Ensembl
Outerchr1:12834462..12847525hg38UCSC Ensembl
Innerchr1:12895403..12907043hg19UCSC Ensembl
Outerchr1:12894313..12907378hg19UCSC Ensembl
Innerchr1:12817990..12829630hg18UCSC Ensembl
Outerchr1:12816900..12829965hg18UCSC Ensembl
Innerchr1:12829669..12841309hg17UCSC Ensembl
Outerchr1:12828579..12841644hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3813064
hg1913066
hg1813066
hg1713066
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8768
Supporting Variants
SamplesNA18860
Known GenesHNRNPCL1, LOC649330
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)nssv28550
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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