A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6596868



Internal ID20969939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54280833..54593913hg38UCSC Ensembl
chr19:54784688..55105378hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38313081
hg19320691
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3723n223
Supporting Variantsnssv18248452
Samples
Known GenesCDC42EP5, KIR3DX1, LAIR1, LAIR2, LENG8, LENG9, LILRA1, LILRA2, LILRA3, LILRA4, LILRA5, LILRB2, MIR4752, TTYH1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6596868
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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