A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11941n54



Internal ID20145365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:8892459..8893692hg38UCSC Ensembl
chr8:8749969..8751202hg19UCSC Ensembl
chr8:8787379..8788612hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381234
hg191234
hg181234
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv610191, nsv610196, nsv610201
Samples
Known GenesMFHAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11941n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss3
Observed Complex0
Frequencyn/a


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