A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699069



Internal ID15089035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144416180..144519234hg38UCSC Ensembl
Innerchr8:145641564..145744618hg19UCSC Ensembl
Innerchr8:145612372..145715426hg18UCSC Ensembl
Innerchr8:145612372..145715426hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38103055
hg19103055
hg18103055
hg17103055
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515809
Supporting Variants
Samples
Known GenesCYHR1, FOXH1, GPT, KIFC2, LOC100287098, LRRC14, MFSD3, MIR6893, PPP1R16A, RECQL4, SLC39A4, TONSL, VPS28
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699069
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