A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970656



Internal ID22745591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57602971..58277049hg38UCSC Ensembl
chr3:57588698..58262776hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38674079
hg19674079
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17410706
Samples
Known GenesABHD6, DENND6A, DNASE1L3, FLNB, SLMAP
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970656
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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