A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977657



Internal ID22752592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66994598..67008200hg38UCSC Ensembl
chr1:67460281..67473883hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3813603
hg1913603
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373477
Samples
Known GenesSLC35D1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977657
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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