A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16905067



Internal ID4193
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 StatusS
Merged Variantsnsv5423692
Supporting Variants
Samples
Known GenesFPGT, FPGT-TNNI3K, LRRIQ3, TNNI3K
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16905067
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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