A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5969825



Internal ID22744760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2167963..2174474hg38UCSC Ensembl
chr19:2167962..2174473hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg386512
hg196512
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17398998
Samples
Known GenesDOT1L
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5969825
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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