A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5401820



Internal ID181196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74366390..74366441hg38UCSC Ensembl
chr1:74832074..74832125hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904659
Samples
Known GenesFPGT-TNNI3K, TNNI3K
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5401820
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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