A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546624



Internal ID16334033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:78916324..78954806hg38UCSC Ensembl
Innerchr1:79382009..79420491hg19UCSC Ensembl
Innerchr1:79154597..79193079hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3838483
hg1938483
hg1838483
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv332n54
Supporting Variantsnssv717738
Samples
Known GenesELTD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546624
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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