A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18269508



Internal ID20836548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:254992..1573727hg38UCSC Ensembl
chr5:255107..1573842hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381318736
hg191318736
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6559864
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
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18269508
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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