A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548591



Internal ID16336000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:191654563..191673486hg38UCSC Ensembl
Innerchr1:191623693..191642616hg19UCSC Ensembl
Innerchr1:189890316..189909239hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3818924
hg1918924
hg1818924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv732606
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548591
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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