A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12995n54



Internal ID20146419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135903671..135992854hg38UCSC Ensembl
chr9:138795517..138884700hg19UCSC Ensembl
chr9:137935338..138024521hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3889184
hg1989184
hg1889184
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv615929, nsv615945
Samples
Known GenesCAMSAP1, UBAC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12995n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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