A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17401553



Internal ID22459423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189693778..189694254hg38UCSC Ensembl
chr2:190558504..190558980hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38477
hg19477
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5977829
Supporting Variants
Samples
Known GenesANKAR
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17401553
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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