A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16924960



Internal ID17389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227045875..227046043hg38UCSC Ensembl
chr2:227910591..227910759hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554556
Supporting Variants
Samples
Known GenesCOL4A4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16924960
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00406


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