A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204415



Internal ID20771455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74525437..74532719hg38UCSC Ensembl
chr1:74991121..74998403hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg387283
hg197283
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6335244
Supporting Variants
Samples
Known GenesFPGT-TNNI3K, TNNI3K
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204415
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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