A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25704



Internal ID15831029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:37731426..37772939hg38UCSC Ensembl
Outerchr2:37730283..37773791hg38UCSC Ensembl
Innerchr2:37958569..38000082hg19UCSC Ensembl
Outerchr2:37957426..38000934hg19UCSC Ensembl
Innerchr2:37812073..37853586hg18UCSC Ensembl
Outerchr2:37810930..37854438hg18UCSC Ensembl
Innerchr2:37870220..37911733hg17UCSC Ensembl
Outerchr2:37869077..37912585hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3843509
hg1943509
hg1843509
hg1743509
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9624
Supporting Variants
SamplesNA12740
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)nssv25704
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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