A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv684895



Internal ID15074861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143904439..144120626hg38UCSC Ensembl
Innerchr8:144978607..145175529hg19UCSC Ensembl
Innerchr8:145050595..145247517hg18UCSC Ensembl
Innerchr8:145050595..145247517hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38216188
hg19196923
hg18196923
hg17196923
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515809
Supporting Variants
Samples
Known GenesCYC1, EXOSC4, GPAA1, GRINA, KIAA1875, MAF1, MIR661, MIR6846, MIR6847, OPLAH, PARP10, PLEC, SHARPIN, SPATC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv684895
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