A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26873



Internal ID15497428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161543527..161667778hg38UCSC Ensembl
Outerchr1:161542887..161668255hg38UCSC Ensembl
Innerchr1:161513317..161637568hg19UCSC Ensembl
Outerchr1:161512677..161638045hg19UCSC Ensembl
Innerchr1:159779941..159904192hg18UCSC Ensembl
Outerchr1:159779301..159904669hg18UCSC Ensembl
Innerchr1:158326372..158369240hg17UCSC Ensembl
Outerchr1:158325732..158369717hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38125369
hg19125369
hg18125369
hg1743986
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8502
Supporting Variants
SamplesNA19221
Known GenesFCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA7
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)nssv26873
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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