A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26549



Internal ID15829082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73806824..73807942hg38UCSC Ensembl
Outerchr2:73806367..73808433hg38UCSC Ensembl
Innerchr2:74033951..74035069hg19UCSC Ensembl
Outerchr2:74033494..74035560hg19UCSC Ensembl
Innerchr2:73887459..73888577hg18UCSC Ensembl
Outerchr2:73887002..73889068hg18UCSC Ensembl
Innerchr2:73945606..73946724hg17UCSC Ensembl
Outerchr2:73945149..73947215hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg382067
hg192067
hg182067
hg172067
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10024
Supporting Variants
SamplesNA10847
Known GenesC2orf78
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)nssv26549
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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