A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875348



Internal ID22650305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74364045..74364809hg38UCSC Ensembl
chr1:74829729..74830493hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38765
hg19765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17386101
Samples
Known GenesFPGT-TNNI3K, TNNI3K
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875348
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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