A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918335



Internal ID12988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:117834687..117835107hg38UCSC Ensembl
chr2:118592263..118592683hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5448861
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918335
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002185


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