A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547854



Internal ID16335263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152173185..152193402hg38UCSC Ensembl
Innerchr1:152145661..152165878hg19UCSC Ensembl
Innerchr1:150412285..150432502hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3820218
hg1920218
hg1820218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv723517
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547854
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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