A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18084835



Internal ID20651875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230118911..230123946hg38UCSC Ensembl
chr2:230983627..230988662hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg385036
hg195036
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6352242
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18084835
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00023


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