A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594743



Internal ID21543343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60713898..60714222hg38UCSC Ensembl
chr11:60481371..60481695hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17075587
SamplesHG03125
Known GenesMS4A8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594743
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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