A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695472



Internal ID15432124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:30308686..30311606hg38UCSC Ensembl
Innerchr8:30166202..30169122hg19UCSC Ensembl
Innerchr8:30285744..30288664hg18UCSC Ensembl
Innerchr8:30285744..30288664hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382921
hg192921
hg182921
hg172921
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518061
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695472
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