A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5867686



Internal ID22642621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:78013346..78564152hg38UCSC Ensembl
chr2:78240472..78791278hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38550807
hg19550807
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407196
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5867686
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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