A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv676769



Internal ID15413421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17424902..17541640hg38UCSC Ensembl
Innerchr8:17282411..17399149hg19UCSC Ensembl
Innerchr8:17326782..17443528hg18UCSC Ensembl
Innerchr8:17326782..17443528hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38116739
hg19116739
hg18116747
hg17116747
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516180
Supporting Variants
Samples
Known GenesSLC7A2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv676769
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