A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16895635



Internal ID171253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:208151892..208152993hg38UCSC Ensembl
chr1:208325237..208326338hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381102
hg191102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442216
Supporting Variants
Samples
Known GenesPLXNA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16895635
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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