A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6597416



Internal ID20970487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53217793..54175150hg38UCSC Ensembl
chr19:53721046..54678844hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38957358
hg19957799
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18246756
Samples
Known GenesBIRC8, CACNG6, CACNG7, CACNG8, CNOT3, DPRX, FAM90A27P, LENG1, LOC284379, MBOAT7, MIR1283-1, MIR1283-2, MIR1323, MIR371A, MIR371B, MIR372, MIR373, MIR498, MIR512-1, MIR512-2, MIR515-1, MIR515-2, MIR516A1, MIR516A2, MIR516B1, MIR516B2, MIR517A, MIR517B, MIR517C, MIR518A1, MIR518A2, MIR518B, MIR518C, MIR518D, MIR518E, MIR518F, MIR519A1, MIR519A2, MIR519B, MIR519C, MIR519D, MIR519E, MIR520A, MIR520B, MIR520C, MIR520D, MIR520E, MIR520F, MIR520G, MIR520H, MIR521-1, MIR521-2, MIR522, MIR523, MIR524, MIR525, MIR526A1, MIR526A2, MIR526B, MIR527, MIR935, MYADM, NDUFA3, NLRP12, OSCAR, PRKCG, PRPF31, TARM1, TFPT, TMC4, TPM3P9, VN1R2, VN1R4, VSTM1, ZNF331, ZNF525, ZNF677, ZNF761, ZNF765, ZNF813, ZNF845
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6597416
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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