A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421082



Internal ID200170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74337417..74348000hg38UCSC Ensembl
chr1:74803101..74813684hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3810584
hg1910584
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904655
Samples
Known GenesFPGT-TNNI3K, TNNI3K
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421082
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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