A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927325



Internal ID18931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176747491..176749477hg38UCSC Ensembl
chr2:177612219..177614205hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381987
hg191987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5448549
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927325
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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