A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972176



Internal ID22747111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213050424..213056089hg38UCSC Ensembl
chr1:213223766..213229431hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg385666
hg195666
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17369324
Samples
Known GenesRPS6KC1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972176
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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