A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549427



Internal ID16336836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:238767053..238789322hg38UCSC Ensembl
Innerchr1:238930353..238952622hg19UCSC Ensembl
Innerchr1:236996976..237019245hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3822270
hg1922270
hg1822270
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv869n54
Supporting Variantsnssv738867
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549427
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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