A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897261



Internal ID172328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225058917..225164935hg38UCSC Ensembl
chr1:225246619..225352637hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38106019
hg19106019
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443569
Supporting Variants
Samples
Known GenesDNAH14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897261
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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