A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546071



Internal ID16333480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40552283..40562537hg38UCSC Ensembl
Innerchr1:41017955..41028209hg19UCSC Ensembl
Innerchr1:40790542..40800796hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3810255
hg1910255
hg1810255
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv244n54
Supporting Variantsnssv712575, nssv712576
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546071
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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