A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv948532



Internal ID16242488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45426100..45477307hg38UCSC Ensembl
Innerchr21:46846015..46897221hg19UCSC Ensembl
Innerchr21:45670443..45721649hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3851208
hg1951207
hg1851207
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587845
Supporting Variants
Samples
Known GenesCOL18A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv948532
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