A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517513



Internal ID6015450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:74743736..74812676hg19UCSC Ensembl
Innerchr16:73301237..73370177hg18UCSC Ensembl
Innerchr16:73301237..73370177hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv683889, nssv665558, nssv669555, nssv652240, nssv652381, nssv696370, nssv688466, nssv667941
Samples
Known GenesFA2H
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv517513
Frequency
Sample Size2026
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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