A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976770



Internal ID22751705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36268941..36269900hg38UCSC Ensembl
chr1:36734542..36735501hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38960
hg19960
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376578
Samples
Known GenesTHRAP3
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976770
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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