A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5969313



Internal ID22744248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:49148257..52144553hg38UCSC Ensembl
chr18:46674627..49670923hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg382996297
hg192996297
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377017
Samples
Known GenesACAA2, C18orf32, CCDC11, CXXC1, DYM, ELAC1, LIPG, LOC100287225, MAPK4, MBD1, ME2, MEX3C, MIR1539, MIR4320, MRO, MYO5B, RPL17, RPL17-C18orf32, SCARNA17, SKA1, SMAD4, SNORD58A, SNORD58B, SNORD58C
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5969313
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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