A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17416251



Internal ID22474121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:239340..1590367hg38UCSC Ensembl
chr5:239455..1590482hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381351028
hg191351028
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5968719
Supporting Variants
Samples
Known GenesAHRR, BRD9, C5orf55, CEP72, CLPTM1L, EXOC3, LOC100506688, LOC100996325, LOC102467073, LPCAT1, MIR4456, MIR4457, MIR4635, MIR6075, NKD2, PDCD6, PP7080, SDHA, SDHAP3, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, TERT, TPPP, TRIP13, ZDHHC11
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17416251
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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