A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517566



Internal ID15098173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83921780..84013110hg38UCSC Ensembl
Innerchr16:83955385..84046715hg19UCSC Ensembl
Innerchr16:82512886..82604216hg18UCSC Ensembl
Innerchr16:82512886..82604216hg17UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3891331
hg1991331
hg1891331
hg1791331
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv652382, nssv668726, nssv700267, nssv697590, nssv701561, nssv702543
Samples
Known GenesNECAB2, OSGIN1, SLC38A8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517566
Frequency
Sample Size2026
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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