A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18237580



Internal ID20804620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:87626564..93230084hg38UCSC Ensembl
chr14:88092908..93696430hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg385603521
hg195603523
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6576886
Supporting Variants
Samples
Known GenesATXN3, C14orf142, C14orf159, CALM1, CATSPERB, CCDC88C, CHGA, CPSF2, EFCAB11, EML5, FBLN5, FOXN3, FOXN3-AS1, FOXN3-AS2, GALC, GOLGA5, GPR65, GPR68, ITPK1, ITPK1-AS1, KCNK10, KCNK13, LGMN, LINC00642, LINC01146, MOAP1, NDUFB1, NRDE2, PSMC1, PTPN21, RIN3, RPS6KA5, SLC24A4, SMEK1, SNORA11B, SPATA7, TC2N, TDP1, TMEM251, TRIP11, TTC7B, TTC8, UBR7, ZC3H14
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18237580
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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