A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21757



Internal ID15483229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161543527..161668809hg38UCSC Ensembl
Outerchr1:161542887..161670055hg38UCSC Ensembl
Innerchr1:161513317..161638599hg19UCSC Ensembl
Outerchr1:161512677..161639845hg19UCSC Ensembl
Innerchr1:159779941..159905223hg18UCSC Ensembl
Outerchr1:159779301..159906469hg18UCSC Ensembl
Innerchr1:158326372..158370271hg17UCSC Ensembl
Outerchr1:158325732..158371512hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38127169
hg19127169
hg18127169
hg1745781
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8502
Supporting Variants
SamplesNA11830
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)nssv21757
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer