A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897382



Internal ID172407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225392970..225400317hg38UCSC Ensembl
chr1:225580672..225588019hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg387348
hg197348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439583
Supporting Variants
Samples
Known GenesDNAH14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897382
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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