A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549246



Internal ID16336655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223995897..224016131hg38UCSC Ensembl
Innerchr1:224183599..224203833hg19UCSC Ensembl
Innerchr1:222250222..222270456hg18UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg3820235
hg1920235
hg1820235
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv827n54
Supporting Variantsnssv737306
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549246
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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