A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17019741



Internal ID80800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134595405..134595456hg38UCSC Ensembl
chr8:135607648..135607699hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403095
Supporting Variants
Samples
Known GenesZFAT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17019741
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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