A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18262439



Internal ID20829479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123151729..129172574hg38UCSC Ensembl
chr3:122870576..128891417hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg386020846
hg196020842
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6556022
Supporting Variants
Samples
Known GenesABTB1, ACAD9, ADCY5, ALDH1L1, ALDH1L1-AS1, ALDH1L1-AS2, ALG1L, C3orf22, C3orf27, C3orf56, CCDC14, CCDC37, CHCHD6, CHST13, CNBP, DNAJB8, DNAJB8-AS1, EEFSEC, EFCC1, FAM86JP, GATA2, GP9, HEG1, ISY1, ISY1-RAB43, ITGB5, KALRN, KBTBD12, KIAA1257, KLF15, LOC100506907, LOC653712, LOC90246, MCM2, MGLL, MIR5002, MIR5092, MIR548I1, MIR6083, MIR6825, MIR7110, MUC13, MYLK, MYLK-AS1, NUP210P1, OSBPL11, PDIA5, PLXNA1, PODXL2, PTPLB, RAB43, RAB7A, ROPN1, ROPN1B, RPN1, RUVBL1, SEC22A, SEC61A1, SLC12A8, SLC41A3, SNX4, TPRA1, TXNRD3, TXNRD3NB, UMPS, UROC1, ZNF148, ZXDC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18262439
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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