A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28247



Internal ID15836035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94930374..94941114hg38UCSC Ensembl
Outerchr2:94929919..94942044hg38UCSC Ensembl
Innerchr2:95596119..95606859hg19UCSC Ensembl
Outerchr2:95595664..95607789hg19UCSC Ensembl
Innerchr2:94959846..94970586hg18UCSC Ensembl
Outerchr2:94959391..94971516hg18UCSC Ensembl
Innerchr2:95017993..95028733hg17UCSC Ensembl
Outerchr2:95017538..95029663hg17UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3812126
hg1912126
hg1812126
hg1712126
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10091
Supporting Variants
SamplesNA18563
Known GenesLOC442028
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)nssv28247
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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