A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548740



Internal ID16336149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196028433..196064405hg38UCSC Ensembl
Innerchr1:195997563..196033535hg19UCSC Ensembl
Innerchr1:194264186..194300158hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3835973
hg1935973
hg1835973
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv733932
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548740
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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