A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv750251



Internal ID15697521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:70689663..70690945hg38UCSC Ensembl
Innerchr10:72449419..72450701hg19UCSC Ensembl
Innerchr10:72119425..72120707hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg381283
hg191283
hg181283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv551488
Supporting Variants
Samples
Known GenesADAMTS14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv750251
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer