A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16920690



Internal ID14577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:137982784..137983300hg38UCSC Ensembl
chr2:138740354..138740870hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38517
hg19517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5451728
Supporting Variants
Samples
Known GenesHNMT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16920690
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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