A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv650n54



Internal ID20134074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179486510..179489070hg38UCSC Ensembl
chr1:179455645..179458205hg19UCSC Ensembl
chr1:177722268..177724828hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg382561
hg192561
hg182561
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548310, nsv548307, nsv548314, nsv548306, nsv548308, nsv548315, nsv548309
Samples
Known GenesAXDND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv650n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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