A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17000257



Internal ID67756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107173636..107176645hg38UCSC Ensembl
chr7:106814081..106817090hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg383010
hg193010
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485410
Supporting Variants
Samples
Known GenesHBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17000257
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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