A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv691965



Internal ID15428617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:141243157..141252228hg38UCSC Ensembl
Innerchr8:142253256..142262327hg19UCSC Ensembl
Innerchr8:142322438..142331509hg18UCSC Ensembl
Innerchr8:142322438..142331509hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg389072
hg199072
hg189072
hg179072
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516911
Supporting Variants
Samples
Known GenesSLC45A4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv691965
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