A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997746



Internal ID19157283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161623061..161668711hg38UCSC Ensembl
Innerchr1:161592851..161638501hg19UCSC Ensembl
Innerchr1:159859475..159905125hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3845651
hg1945651
hg1845651
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv452n100
Supporting Variantsnssv3704796, nssv3490766, nssv3486227, nssv3490159, nssv3490948, nssv3483554, nssv3494122, nssv3499894, nssv3498490, nssv3498190, nssv3487886, nssv3499327, nssv3498030, nssv3485308, nssv3498715, nssv3704798, nssv3486662, nssv3502151, nssv3495704, nssv3493193, nssv3499236, nssv3486060, nssv3484025, nssv3704795, nssv3704799, nssv3500662, nssv3490033, nssv3704797, nssv3487245, nssv3497255
Samples
Known GenesFCGR2B, FCGR3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997746
Frequency
Sample Size11257
Observed Gain26
Observed Loss4
Observed Complex0
Frequencyn/a


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