A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972405



Internal ID22747340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76739441..76993424hg38UCSC Ensembl
chr1:77205126..77459109hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38253984
hg19253984
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17386085
Samples
Known GenesST6GALNAC5
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972405
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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