A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977268



Internal ID22752203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:169797536..169797732hg38UCSC Ensembl
chr5:169224540..169224736hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17413623
Samples
Known GenesDOCK2
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977268
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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