A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6570561



Internal ID20943632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:117041188..125064052hg38UCSC Ensembl
chr4:117962344..125985207hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg388022865
hg198022864
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18264155
Samples
Known GenesADAD1, ANKRD50, ANXA5, BBS12, BBS7, C4orf3, CCNA2, CEP170P1, CETN4P, EXOSC9, FABP2, FGF2, IL2, IL21, IL21-AS1, KIAA1109, LINC01061, LINC01091, LOC645513, LOC729218, MAD2L1, METTL14, MYOZ2, NDNF, NDST3, NUDT6, PDE5A, PP12613, PRDM5, PRSS12, QRFPR, SEC24D, SNHG8, SNORA24, SPATA5, SPRY1, SYNPO2, TMEM155, TNIP3, TRAM1L1, TRPC3, USP53
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6570561
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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