A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976348



Internal ID22751283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:103823749..108603414hg38UCSC Ensembl
chr4:104744906..109524570hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg384779666
hg194779665
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17415151
Samples
Known GenesAIMP1, ARHGEF38, ARHGEF38-IT1, CXXC4, CYP2U1, DKK2, GIMD1, GSTCD, HADH, INTS12, LEF1, LEF1-AS1, NPNT, PAPSS1, PPA2, RPL34-AS1, SGMS2, TBCK, TET2
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976348
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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