A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11757



Internal ID15842223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:231820927..231844028hg38UCSC Ensembl
Outerchr2:231819724..231849828hg38UCSC Ensembl
Innerchr2:232685637..232708738hg19UCSC Ensembl
Outerchr2:232684434..232714538hg19UCSC Ensembl
Innerchr2:232393881..232416982hg18UCSC Ensembl
Outerchr2:232392678..232422782hg18UCSC Ensembl
Innerchr2:232511142..232534243hg17UCSC Ensembl
Outerchr2:232509939..232540043hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3830105
hg1930105
hg1830105
hg1730105
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10223
Supporting Variants
SamplesNA19132
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)nssv11757
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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