A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973139



Internal ID22748074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159927791..159928940hg38UCSC Ensembl
chr5:159354798..159355947hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg381150
hg191150
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17428956
Samples
Known GenesADRA1B
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973139
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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