A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548670



Internal ID16336079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:194332623..194361570hg38UCSC Ensembl
Innerchr1:194301753..194330700hg19UCSC Ensembl
Innerchr1:192568376..192597323hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3828948
hg1928948
hg1828948
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv732837
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548670
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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