A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16900247



Internal ID954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25724513..25724513hg38UCSC Ensembl
chr1:26051004..26051004hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38467
hg19467
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533987
Supporting Variants
Samples
Known GenesMAN1C1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16900247
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001564


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