A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18254556



Internal ID20821596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148865353..155671569hg38UCSC Ensembl
chr2:149622922..156528081hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg386806217
hg196905160
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6541714
Supporting Variants
Samples
Known GenesARL5A, ARL6IP6, CACNB4, FMNL2, GALNT13, KCNJ3, KIF5C, LOC100144595, LYPD6, LYPD6B, MIR4773-1, MIR4773-2, MMADHC, NEB, NMI, PRPF40A, RBM43, RIF1, RND3, RPRM, STAM2, TNFAIP6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18254556
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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