A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16916446



Internal ID11678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104816525..104817992hg38UCSC Ensembl
chr2:105432983..105434450hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg381468
hg191468
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560126
Supporting Variants
Samples
Known GenesLOC100506421
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16916446
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000468


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