A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16921138



Internal ID14869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177310555..177311451hg38UCSC Ensembl
chr2:178175283..178176179hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38897
hg19897
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446747
Supporting Variants
Samples
Known GenesLOC100130691
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16921138
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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