A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889253



Internal ID166927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114907025..114907076hg38UCSC Ensembl
chr1:115449646..115449697hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5396162
Supporting Variants
Samples
Known GenesSYCP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889253
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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