A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549126



Internal ID15989849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:211577866..211579293hg38UCSC Ensembl
Innerchr1:211751208..211752635hg19UCSC Ensembl
Innerchr1:209817831..209819258hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381428
hg191428
hg181428
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv801n54
Supporting Variantsnssv736825, nssv736826
Samples
Known GenesSLC30A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549126
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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