A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546758



Internal ID16334167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:85972644..86017949hg38UCSC Ensembl
Innerchr1:86438327..86483632hg19UCSC Ensembl
Innerchr1:86210915..86256220hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3845306
hg1945306
hg1845306
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv718730
Samples
Known GenesCOL24A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546758
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