A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16920000



Internal ID14113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:126797623..126797696hg38UCSC Ensembl
chr2:127555199..127555272hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450221
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16920000
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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