A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18237433



Internal ID20804473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:65793878..70322614hg38UCSC Ensembl
chr14:66260596..70789331hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg384528737
hg194528736
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6591861
Supporting Variants
Samples
Known GenesACTN1, ACTN1-AS1, ADAM21P1, ARG2, ATP6V1D, CCDC177, DCAF5, EIF2S1, ERH, EXD2, FAM71D, GALNT16, GPHN, KIAA0247, LINC00238, LOC100289511, MPP5, PIGH, PLEK2, PLEKHD1, PLEKHH1, RAD51B, RDH11, RDH12, SLC10A1, SLC39A9, SLC8A3, SMOC1, SRSF5, TMEM229B, VTI1B, ZFP36L1, ZFYVE26
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18237433
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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