A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423692



Internal ID202705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:73622661..74248218hg38UCSC Ensembl
chr1:74088344..74713902hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38625558
hg19625559
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905067
Samples
Known GenesFPGT, FPGT-TNNI3K, LRRIQ3, TNNI3K
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423692
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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