A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18254711



Internal ID20821751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36496811..44407132hg38UCSC Ensembl
chr21:37869109..45827015hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg387910322
hg197957907
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6599575
Supporting Variants
Samples
Known GenesABCG1, AGPAT3, AIRE, B3GALT5, BACE2, BRWD1, BRWD1-AS1, BRWD1-IT2, C21orf128, C21orf2, C21orf33, C21orf88, C2CD2, CBS, CLDN14, CRYAA, CSTB, DNMT3L, DSCAM, DSCAM-AS1, DSCAM-IT1, DSCR10, DSCR3, DSCR4, DSCR8, DSCR9, DYRK1A, ERG, ETS2, FAM3B, HLCS, HMGN1, HSF2BP, ICOSLG, IGSF5, KCNJ15, KCNJ6, LCA5L, LINC00111, LINC00112, LINC00114, LINC00313, LINC00319, LINC00322, LINC00323, LINC00479, LOC284837, MIR3197, MIR4760, MIR6070, MIR6508, MIR6814, MX1, MX2, NDUFV3, PCP4, PDE9A, PDXK, PFKL, PIGP, PKNOX1, PLAC4, PRDM15, PSMG1, PWP2, RIPK4, RIPPLY3, RRP1, RRP1B, RSPH1, SH3BGR, SIK1, SIM2, SLC37A1, TFF1, TFF2, TFF3, TMPRSS2, TMPRSS3, TRAPPC10, TRPM2, TTC3, U2AF1, UBASH3A, UMODL1, WDR4, WRB, ZBTB21, ZNF295-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18254711
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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