A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464173



Internal ID15524238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161509955..161677017hg38UCSC Ensembl
Innerchr1:161479745..161646807hg19UCSC Ensembl
Innerchr1:159746369..159913431hg18UCSC Ensembl
Innerchr1:158292800..158378474hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38167063
hg19167063
hg18167063
hg1785675
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540130
Samples1780854525_A
Known GenesFCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA6, HSPA7
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv464173
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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