A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6599575



Internal ID20972646
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 StatusM
Merged Variants
Supporting Variantsnssv18254711
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)nsv6599575
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer