A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16996317



Internal ID64994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43040864..43047754hg38UCSC Ensembl
chr7:43080463..43087353hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg386891
hg196891
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5490042
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16996317
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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