A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972469



Internal ID22747404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47356266..47357901hg38UCSC Ensembl
chr1:47821938..47823573hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg381636
hg191636
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379160
Samples
Known GenesCMPK1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972469
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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