A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976399



Internal ID22751334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17577704..20098016hg38UCSC Ensembl
chr22:18060477..20085539hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382520313
hg192025063
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17404412
Samples
Known GenesARVCF, ATP6V1E1, BCL2L13, BID, C22orf29, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR10, DGCR11, DGCR14, DGCR2, DGCR5, DGCR6, DGCR8, DGCR9, FLJ41941, GGT3P, GNB1L, GP1BB, GSC2, HIRA, LINC00528, LINC00895, LOC100652736, MICAL3, MIR1306, MIR185, MIR3198-1, MIR3618, MIR4761, MIR648, MRPL40, PEX26, PRODH, SEPT5, SEPT5-GP1BB, SLC25A1, SLC25A18, TANGO2, TBX1, TSSK2, TUBA8, TXNRD2, UFD1L, USP18
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976399
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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