A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548043



Internal ID15988766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158993337..159002700hg38UCSC Ensembl
Innerchr1:158963127..158972490hg19UCSC Ensembl
Innerchr1:157229751..157239114hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg389364
hg199364
hg189364
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv726558
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548043
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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