A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546295



Internal ID15987018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54628151..54629245hg38UCSC Ensembl
Innerchr1:55093824..55094918hg19UCSC Ensembl
Innerchr1:54866412..54867506hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381095
hg191095
hg181095
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv282n54
Supporting Variantsnssv713472, nssv713473
Samples
Known GenesACOT11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546295
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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