A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698720



Internal ID15088686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1971892..2083900hg38UCSC Ensembl
Innerchr16:2021893..2133901hg19UCSC Ensembl
Innerchr16:1961894..2073902hg18UCSC Ensembl
Innerchr16:1961894..2073902hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38112009
hg19112009
hg18112009
hg17112009
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523037
Supporting Variants
Samples
Known GenesGFER, NOXO1, NPW, NTHL1, SLC9A3R2, SYNGR3, TBL3, TSC2, ZNF598
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698720
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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