A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6596534



Internal ID20969605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39133553..42757193hg38UCSC Ensembl
chr22:39529558..43153199hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg383623641
hg193623642
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18254982
Samples
Known GenesA4GALT, ACO2, ADSL, ATF4, ATP5L2, C22orf46, CACNA1I, CBX7, CCDC134, CENPM, CHADL, CSDC2, CYB5R3, CYP2D6, CYP2D7P, DESI1, DNAJB7, ENTHD1, EP300, FAM109B, FAM83F, GRAP2, L3MBTL2, LINC00634, LOC100130899, LOC100506472, LOC388906, MCHR1, MEI1, MGAT3, MIEF1, MIR1281, MIR33A, MIR4766, MIR6889, MKL1, NAGA, NDUFA6, NDUFA6-AS1, NFAM1, NHP2L1, PDGFB, PHF5A, PMM1, POLDIP3, POLR3H, RANGAP1, RBX1, RNU12, RNU86, RPL3, RPS19BP1, RRP7A, RRP7B, SEPT3, SERHL, SERHL2, SGSM3, SHISA8, SLC25A17, SMDT1, SNORD43, SNORD83A, SNORD83B, SREBF2, ST13, SYNGR1, TAB1, TCF20, TEF, TNFRSF13C, TNRC6B, TOB2, WBP2NL, XPNPEP3, XRCC6, ZC3H7B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6596534
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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