A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17390462



Internal ID22448332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46610553..46613141hg38UCSC Ensembl
chr2:46837692..46840280hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg382589
hg192589
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5977136
Supporting Variants
Samples
Known GenesPIGF
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17390462
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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