A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28623



Internal ID15834415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40385408..40386905hg38UCSC Ensembl
Outerchr2:40384869..40388580hg38UCSC Ensembl
Innerchr2:40612548..40614045hg19UCSC Ensembl
Outerchr2:40612009..40615720hg19UCSC Ensembl
Innerchr2:40466052..40467549hg18UCSC Ensembl
Outerchr2:40465513..40469224hg18UCSC Ensembl
Innerchr2:40524199..40525696hg17UCSC Ensembl
Outerchr2:40523660..40527371hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg383712
hg193712
hg183712
hg173712
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9658
Supporting Variants
SamplesNA18517
Known GenesSLC8A1
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)nssv28623
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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