A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917557



Internal ID12451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:98866541..98866545hg38UCSC Ensembl
chr2:99483004..99483008hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg385
hg195
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559056
Supporting Variants
Samples
Known GenesKIAA1211L
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917557
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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