A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6595692



Internal ID20968763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2488062..4373728hg38UCSC Ensembl
chr20:2468708..4354375hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381885667
hg191885668
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18254301
Samples
Known GenesADAM33, ADRA1D, AP5S1, ATRN, AVP, C20orf141, C20orf194, C20orf27, CDC25B, CENPB, CPXM1, DDRGK1, EBF4, FASTKD5, GFRA4, GNRH2, HSPA12B, IDH3B, ITPA, LOC728228, LZTS3, MAVS, MIR103A2, MIR103B2, MIR1292, MRPS26, NOP56, OXT, PANK2, PCED1A, PTPRA, RNF24, SIGLEC1, SLC4A11, SMOX, SNORA51, SNORD110, SNORD56, SNORD57, SNORD86, SPEF1, TMC2, TMEM239, UBOX5, UBOX5-AS1, VPS16, ZNF343
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6595692
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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