A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5969343



Internal ID22744278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161566673..161918703hg38UCSC Ensembl
chr1:161536463..161888493hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38352031
hg19352031
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365656
Samples
Known GenesATF6, DUSP12, FCGR2B, FCGR2C, FCGR3B, FCRLA, FCRLB, HSPA7, RPL31P11
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5969343
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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