A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17415295



Internal ID22473165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56699845..56882602hg38UCSC Ensembl
chr3:56733873..56916630hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38182758
hg19182758
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5974057
Supporting Variants
Samples
Known GenesARHGEF3
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17415295
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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