A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549138



Internal ID15989861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:211578705..211579752hg38UCSC Ensembl
Innerchr1:211752047..211753094hg19UCSC Ensembl
Innerchr1:209818670..209819717hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381048
hg191048
hg181048
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv803n54
Supporting Variantsnssv736841
Samples
Known GenesSLC30A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549138
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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