A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968719



Internal ID22743654
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 StatusM
Merged Variants
Supporting Variantsnssv17416251
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)nsv5968719
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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