A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv798n54



Internal ID22768693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210548530..210551984hg38UCSC Ensembl
chr1:210721874..210725328hg19UCSC Ensembl
chr1:208788497..208791951hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg383455
hg193455
hg183455
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549107, nsv549116, nsv549120
Samples
Known GenesHHAT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv798n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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