A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897360



Internal ID172396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225190739..225190810hg38UCSC Ensembl
chr1:225378441..225378512hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434214
Supporting Variants
Samples
Known GenesDNAH14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897360
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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