A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18249514



Internal ID20816554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183856809..187909292hg38UCSC Ensembl
chr1:183825943..187878423hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg384052484
hg194052481
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6548934
Supporting Variants
Samples
Known GenesC1orf21, C1orf27, COLGALT2, EDEM3, FAM129A, HMCN1, IVNS1ABP, LOC100288079, MIR548F1, OCLM, PDC, PLA2G4A, PRG4, PTGS2, RGL1, RNF2, RNU6-72P, SWT1, TPR, TRMT1L, TSEN15
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18249514
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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