A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547211



Internal ID16334620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:104347464..104368704hg38UCSC Ensembl
Innerchr1:104890086..104911326hg19UCSC Ensembl
Innerchr1:104691609..104712849hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3821241
hg1921241
hg1821241
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173081
SamplesHGDP00925
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547211
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