A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518291



Internal ID15098898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:47354..254515hg38UCSC Ensembl
Innerchr16:97354..304514hg19UCSC Ensembl
Innerchr16:37354..244515hg18UCSC Ensembl
Innerchr16:37354..244515hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38207162
hg19207161
hg18207162
hg17207162
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695722
Samples
Known GenesHBA1, HBA2, HBM, HBQ1, HBZ, ITFG3, LUC7L, MPG, NPRL3, POLR3K, RHBDF1, SNRNP25
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518291
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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