A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546625



Internal ID16334034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:78921327..78951935hg38UCSC Ensembl
Innerchr1:79387012..79417620hg19UCSC Ensembl
Innerchr1:79159600..79190208hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3830609
hg1930609
hg1830609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv332n54
Supporting Variantsnssv717741, nssv717740, nssv717739
Samples
Known GenesELTD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546625
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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