A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17377017



Internal ID22434887
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 StatusS
Merged Variantsnsv5969313
Supporting Variants
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)nssv17377017
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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