A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967778



Internal ID22742714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75506125..75610335hg38UCSC Ensembl
chr17:73502206..73606416hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38104211
hg19104211
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388718
Samples
Known GenesCASKIN2, LLGL2, MYO15B, TSEN54
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967778
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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