A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968424



Internal ID22743359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246239515..246720084hg38UCSC Ensembl
chr1:246402817..246883386hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38480570
hg19480570
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17359196
Samples
Known GenesCNST, LOC255654, SMYD3, TFB2M
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968424
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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