A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549218



Internal ID16336627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:218173444..218213894hg38UCSC Ensembl
Innerchr1:218346786..218387236hg19UCSC Ensembl
Innerchr1:216413409..216453859hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3840451
hg1940451
hg1840451
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv736991
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549218
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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