A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17000258



Internal ID67757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107183870..107183961hg38UCSC Ensembl
chr7:106824315..106824406hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5492826
Supporting Variants
Samples
Known GenesHBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17000258
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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