A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547936



Internal ID16335345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153702228..153720856hg38UCSC Ensembl
Innerchr1:153674704..153693332hg19UCSC Ensembl
Innerchr1:151941328..151959956hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3818629
hg1918629
hg1818629
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv583n54
Supporting Variantsnssv724855
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547936
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