A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897358



Internal ID172394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225182984..225184236hg38UCSC Ensembl
chr1:225370686..225371938hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg381253
hg191253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435852
Supporting Variants
Samples
Known GenesDNAH14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897358
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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