A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973264



Internal ID22748199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:95666673..95918761hg38UCSC Ensembl
chr2:96332421..96584509hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38252089
hg19252089
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17398284
Samples
Known GenesLINC00342
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973264
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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