A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548645



Internal ID16336054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:191984545..192071446hg38UCSC Ensembl
Innerchr1:191953675..192040576hg19UCSC Ensembl
Innerchr1:190220298..190307199hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3886902
hg1986902
hg1886902
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv714n54
Supporting Variantsnssv732804
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548645
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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