A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12693n54



Internal ID22780588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:60913952..61000253hg38UCSC Ensembl
chr9:39884520..39970742hg19UCSC Ensembl
chr9:39874520..39960742hg18UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg3886302
hg1986223
hg1886223
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv614297, nsv614298
Samples
Known GenesFAM74A1, SPATA31A1, SPATA31A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12693n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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