A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516504



Internal ID15443797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75189593..75272504hg38UCSC Ensembl
Innerchr16:75223491..75306402hg19UCSC Ensembl
Innerchr16:73780992..73863903hg18UCSC Ensembl
Innerchr16:73780992..73863903hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3882912
hg1982912
hg1882912
hg1782912
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697410, nssv668725, nssv697679, nssv673339, nssv675086, nssv704708, nssv669596
Samples
Known GenesBCAR1, CTRB1, CTRB2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516504
Frequency
Sample Size2026
Observed Gain1
Observed Loss6
Observed Complex0
Frequencyn/a


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