A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5980068



Internal ID22755003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204546577..204562849hg38UCSC Ensembl
chr1:204515705..204531977hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3816273
hg1916273
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17362599
Samples
Known GenesMDM4
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5980068
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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