A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv803n54



Internal ID20134227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211578261..211579752hg38UCSC Ensembl
chr1:211751603..211753094hg19UCSC Ensembl
chr1:209818226..209819717hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381492
hg191492
hg181492
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549132, nsv549138, nsv549136, nsv549133, nsv549135, nsv549130, nsv549134
Samples
Known GenesSLC30A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv803n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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