A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv809n54



Internal ID22768704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212828746..212836315hg38UCSC Ensembl
chr1:213002088..213009657hg19UCSC Ensembl
chr1:211068711..211076280hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg387570
hg197570
hg187570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549155, nsv549154, nsv549161, nsv549160
Samples
Known GenesC1orf227
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv809n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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