A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17416547



Internal ID22474417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:108267752..117667772hg38UCSC Ensembl
chr4:109188908..118588927hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg389400021
hg199400020
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5969033
Supporting Variants
Samples
Known GenesALPK1, ANK2, AP1AR, ARSJ, C4orf21, C4orf32, CAMK2D, CASP6, CCDC109B, CFI, COL25A1, EGF, ELOVL6, ENPEP, ETNPPL, GAR1, LARP7, LRIT3, MIR1243, MIR1973, MIR302A, MIR302B, MIR302C, MIR302D, MIR367, MIR577, MIR8082, NDST4, NEUROG2, OSTC, PITX2, PLA2G12A, RPL34, RPL34-AS1, RRH, SEC24B, SEC24B-AS1, TIFA, TRAM1L1, UGT8
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17416547
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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