A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546678



Internal ID16334087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:80955255..81114044hg38UCSC Ensembl
Innerchr1:81420940..81579729hg19UCSC Ensembl
Innerchr1:81193528..81352317hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38158790
hg19158790
hg18158790
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv718371
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546678
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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