A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv672253



Internal ID15408905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:38936164..38941539hg38UCSC Ensembl
Innerchr8:38793682..38799057hg19UCSC Ensembl
Innerchr8:38912839..38918214hg18UCSC Ensembl
Innerchr8:38912839..38918214hg17UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg385376
hg195376
hg185376
hg175376
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516960
Supporting Variants
Samples
Known GenesPLEKHA2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv672253
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