A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18084217



Internal ID20651257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197271688..197276940hg38UCSC Ensembl
chr2:198136412..198141664hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg385253
hg195253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6352677
Supporting Variants
Samples
Known GenesANKRD44
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18084217
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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