A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6599116



Internal ID20972187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43689244..45912414hg38UCSC Ensembl
chr21:45109125..47332328hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382223171
hg192223204
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4606n223
Supporting Variantsnssv18255084
Samples
Known GenesADARB1, AGPAT3, AIRE, C21orf2, C21orf33, C21orf67, C21orf90, COL18A1, COL18A1-AS1, COL18A1-AS2, CSTB, DNMT3L, FAM207A, ICOSLG, ITGB2, ITGB2-AS1, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LINC00162, LINC00163, LINC00316, LOC100129027, LOC284837, LOC642852, LRRC3, LRRC3-AS1, MIR6815, PCBP3, PDXK, PFKL, POFUT2, PTTG1IP, PWP2, RRP1, RRP1B, SLC19A1, SSR4P1, SUMO3, TRAPPC10, TRPM2, TSPEAR, TSPEAR-AS1, UBE2G2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6599116
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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