A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18269467



Internal ID20836507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:239290..1590345hg38UCSC Ensembl
chr5:239405..1590460hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381351056
hg191351056
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6565030
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)nssv18269467
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00028


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