A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600501



Internal ID16041224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179301829..179323376hg38UCSC Ensembl
Innerchr5:178728830..178750377hg19UCSC Ensembl
Innerchr5:178661436..178682983hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3821548
hg1921548
hg1821548
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1046316
Samples
Known GenesADAMTS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600501
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