A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972043



Internal ID22746978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120379737..120384122hg38UCSC Ensembl
chr2:121137313..121141698hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg384386
hg194386
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395690
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972043
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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