A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24572



Internal ID15832094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:37731426..37773791hg38UCSC Ensembl
Outerchr2:37730283..37775218hg38UCSC Ensembl
Innerchr2:37958569..38000934hg19UCSC Ensembl
Outerchr2:37957426..38002361hg19UCSC Ensembl
Innerchr2:37812073..37854438hg18UCSC Ensembl
Outerchr2:37810930..37855865hg18UCSC Ensembl
Innerchr2:37870220..37912585hg17UCSC Ensembl
Outerchr2:37869077..37914012hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3844936
hg1944936
hg1844936
hg1744936
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9624
Supporting Variants
SamplesNA12872
Known Genes
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)nssv24572
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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