A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970228



Internal ID22745163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:42666448..47133105hg38UCSC Ensembl
chr18:40246413..44659476hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg384466658
hg194413064
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17384809
Samples
Known GenesATP5A1, C18orf25, EPG5, HAUS1, HDHD2, KATNAL2, LINC00907, LOXHD1, MIR4319, PIAS2, PSTPIP2, RIT2, RNF165, SETBP1, SIGLEC15, SLC14A1, SLC14A2, ST8SIA5, SYT4, TCEB3B, TCEB3C, TCEB3CL, TCEB3CL2
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970228
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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