A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978109



Internal ID22753044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54222352..54696988hg38UCSC Ensembl
chr19:54726224..55208767hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38474637
hg19482544
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400987
Samples
Known GenesCDC42EP5, KIR3DX1, LAIR1, LAIR2, LENG8, LENG9, LILRA1, LILRA2, LILRA3, LILRA4, LILRA5, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, MIR4752, MIR8061, TTYH1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978109
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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