A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv689907



Internal ID15079873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7511473..8248986hg38UCSC Ensembl
Innerchr8:7368995..8106508hg19UCSC Ensembl
Innerchr8:7356405..8143918hg18UCSC Ensembl
Innerchr8:7356405..8143918hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38737514
hg19737514
hg18787514
hg17787514
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515968
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, FAM66E, FAM86B3P, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv689907
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