A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26573



Internal ID15496423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161671031..161672515hg38UCSC Ensembl
Outerchr1:161670602..161673099hg38UCSC Ensembl
Innerchr1:161640821..161642305hg19UCSC Ensembl
Outerchr1:161640392..161642889hg19UCSC Ensembl
Innerchr1:159907445..159908929hg18UCSC Ensembl
Outerchr1:159907016..159909513hg18UCSC Ensembl
Innerchr1:158372488..158373972hg17UCSC Ensembl
Outerchr1:158372059..158374556hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg382498
hg192498
hg182498
hg172498
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8502
Supporting Variants
SamplesNA19173
Known GenesFCGR2B
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)nssv26573
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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