A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917678



Internal ID12525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:123021058..123176398hg38UCSC Ensembl
chr2:123778634..123933974hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38155341
hg19155341
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561840
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917678
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000468


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