A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546623



Internal ID16334032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:78908894..79043424hg38UCSC Ensembl
Innerchr1:79374579..79509109hg19UCSC Ensembl
Innerchr1:79147167..79281697hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38134531
hg19134531
hg18134531
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv717737
Samples
Known GenesELTD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546623
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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