A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18248427



Internal ID20815467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53839120..54950754hg38UCSC Ensembl
chr19:54342374..55462122hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381111635
hg191119749
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6599207
Supporting Variants
Samples
Known GenesCACNG6, CACNG7, CACNG8, CDC42EP5, CNOT3, FCAR, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIR3DX1, LAIR1, LAIR2, LENG1, LENG8, LENG9, LILRA1, LILRA2, LILRA3, LILRA4, LILRA5, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LILRP2, LOC100287534, MBOAT7, MIR4752, MIR8061, MIR935, MYADM, NCR1, NDUFA3, NLRP7, OSCAR, PRKCG, PRPF31, RPS9, TARM1, TFPT, TMC4, TSEN34, TTYH1, VSTM1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18248427
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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