A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976299



Internal ID22751234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209889772..209935400hg38UCSC Ensembl
chr1:210063117..210108745hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3845629
hg1945629
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17357966
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976299
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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