A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547568



Internal ID16334977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:114042968..114081245hg38UCSC Ensembl
Innerchr1:114585590..114623867hg19UCSC Ensembl
Innerchr1:114387113..114425390hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3838278
hg1938278
hg1838278
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv516n54
Supporting Variantsnssv1173120
Samples1780862015_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547568
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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