A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001681



Internal ID68722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117371091..117373263hg38UCSC Ensembl
chr7:117011145..117013317hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg382173
hg192173
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556248
Supporting Variants
Samples
Known GenesASZ1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001681
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.001249


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