A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904650



Internal ID3918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74291491..74293881hg38UCSC Ensembl
chr1:74757175..74759565hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382391
hg192391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415970
Supporting Variants
Samples
Known GenesFPGT-TNNI3K, TNNI3K
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904650
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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