A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970264



Internal ID22745199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4725625..4726683hg38UCSC Ensembl
chr17:4628920..4629978hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381059
hg191059
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376783
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970264
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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