A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5830645



Internal ID22605580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74426679..74427878hg38UCSC Ensembl
chr1:74892363..74893562hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17481214, nssv17481215
Samples
Known GenesFPGT-TNNI3K, TNNI3K
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5830645
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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