A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012146



Internal ID75767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:74303600..74303633hg38UCSC Ensembl
chr8:75215835..75215868hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5537508
Supporting Variants
Samples
Known GenesJPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012146
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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