A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517640



Internal ID15098247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161525250..161692694hg38UCSC Ensembl
Innerchr1:161495040..161662484hg19UCSC Ensembl
Innerchr1:159761664..159929108hg18UCSC Ensembl
Innerchr1:158308095..158394142hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38167445
hg19167445
hg18167445
hg1786048
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv677518, nssv693456, nssv698834, nssv686593, nssv679036, nssv686629, nssv654186, nssv677746, nssv672481, nssv677351, nssv693890, nssv678767, nssv671510, nssv666844, nssv652754
Samples
Known GenesFCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA6, HSPA7, RPL31P11
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517640
Frequency
Sample Size2026
Observed Gain7
Observed Loss8
Observed Complex0
Frequencyn/a


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