A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv265n54



Internal ID22768160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:49447388..49532567hg38UCSC Ensembl
chr1:49913060..49998239hg19UCSC Ensembl
chr1:49685647..49770826hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3885180
hg1985180
hg1885180
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546198, nsv546197
Samples
Known GenesAGBL4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv265n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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