A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700463



Internal ID15437115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:80399783..80474831hg38UCSC Ensembl
Innerchr10:82159539..82234587hg19UCSC Ensembl
Innerchr10:82149519..82224567hg18UCSC Ensembl
Innerchr10:82149519..82224567hg17UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg3875049
hg1975049
hg1875049
hg1775049
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524518
Supporting Variants
Samples
Known GenesFAM213A, TSPAN14
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700463
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