A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28507



Internal ID15830423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94860717..94889957hg38UCSC Ensembl
Outerchr2:94859007..94890821hg38UCSC Ensembl
Innerchr2:95526462..95555702hg19UCSC Ensembl
Outerchr2:95524752..95556566hg19UCSC Ensembl
Innerchr2:94890189..94919429hg18UCSC Ensembl
Outerchr2:94888479..94920293hg18UCSC Ensembl
Innerchr2:94948336..94977576hg17UCSC Ensembl
Outerchr2:94946626..94978440hg17UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3831815
hg1931815
hg1831815
hg1731815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10089
Supporting Variants
SamplesNA12155
Known GenesLOC442028, TEKT4
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)nssv28507
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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