A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8957n54



Internal ID20142381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8269524..8278313hg38UCSC Ensembl
chr4:8271251..8280040hg19UCSC Ensembl
chr4:8322151..8330940hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg388790
hg198790
hg188790
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv593633, nsv593630
Samples
Known GenesHTRA3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8957n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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